Canonical Allele Identifier: CA607156365
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875943569
gnomAD v2: 12-103259860-G-GGAA
gnomAD v3: 12-102866082-G-GGAA
gnomAD v4: 12-102866082-G-GGAA
MyVariant Identifiers: chr12:g.103259860_103259861insGAA (hg19) chr12:g.102866082_102866083insGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866083_102866085dup , CM000674.2:g.102866083_102866085dup GRCh38
NC_000012.11:g.103259861_103259863dup , CM000674.1:g.103259861_103259863dup GRCh37
NC_000012.10:g.101783991_101783993dup NCBI36
NG_008690.1:g.56518_56520dup
NG_008690.2:g.97326_97328dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+511_509+513dup MANE Select ENSP00000448059.1:n.509+511_509+513dup
ENST00000307000.7:c.494+511_494+513dup ENSP00000303500.2:n.494+511_494+513dup
ENST00000549111.5:n.605+511_605+513dup
ENST00000551988.5:n.531-10753_531-10751dup
ENST00000553106.5:c.509+511_509+513dup ENSP00000448059.1:n.509+511_509+513dup
NM_000277.1:c.509+511_509+513dup NP_000268.1:n.509+511_509+513dup
XM_011538422.1:c.509+511_509+513dup XP_011536724.1:n.509+511_509+513dup
NM_000277.2:c.509+511_509+513dup NP_000268.1:n.509+511_509+513dup
NM_001354304.1:c.509+511_509+513dup NP_001341233.1:n.509+511_509+513dup
XM_017019370.2:c.509+511_509+513dup XP_016874859.1:n.509+511_509+513dup
NM_000277.3:c.509+511_509+513dup MANE Select NP_000268.1:n.509+511_509+513dup
NM_001354304.2:c.509+511_509+513dup NP_001341233.1:n.509+511_509+513dup
Search 100 bp 5'
Search 100 bp 3'