Canonical Allele Identifier: CA607156367
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs3062690
gnomAD v2: 12-103259861-G-GAA
gnomAD v3: 12-102866083-G-GAA
gnomAD v4: 12-102866083-G-GAA
MyVariant Identifiers: chr12:g.103259861_103259862insAA (hg19) chr12:g.102866083_102866084insAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866094_102866095dup , CM000674.2:g.102866094_102866095dup GRCh38
NC_000012.11:g.103259872_103259873dup , CM000674.1:g.103259872_103259873dup GRCh37
NC_000012.10:g.101784002_101784003dup NCBI36
NG_008690.1:g.56518_56519dup
NG_008690.2:g.97326_97327dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+511_509+512dup MANE Select ENSP00000448059.1:n.509+511_509+512dup
ENST00000307000.7:c.494+511_494+512dup ENSP00000303500.2:n.494+511_494+512dup
ENST00000549111.5:n.605+511_605+512dup
ENST00000551988.5:n.531-10753_531-10752dup
ENST00000553106.5:c.509+511_509+512dup ENSP00000448059.1:n.509+511_509+512dup
NM_000277.1:c.509+511_509+512dup NP_000268.1:n.509+511_509+512dup
XM_011538422.1:c.509+511_509+512dup XP_011536724.1:n.509+511_509+512dup
NM_000277.2:c.509+511_509+512dup NP_000268.1:n.509+511_509+512dup
NM_001354304.1:c.509+511_509+512dup NP_001341233.1:n.509+511_509+512dup
XM_017019370.2:c.509+511_509+512dup XP_016874859.1:n.509+511_509+512dup
NM_000277.3:c.509+511_509+512dup MANE Select NP_000268.1:n.509+511_509+512dup
NM_001354304.2:c.509+511_509+512dup NP_001341233.1:n.509+511_509+512dup
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