Canonical Allele Identifier: CA242492980
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs141411656
gnomAD v3: 12-102877371-G-C
gnomAD v4: 12-102877371-G-C
MyVariant Identifiers: chr12:g.103271149G>C (hg19) chr12:g.102877371G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877371G>C , CM000674.2:g.102877371G>C GRCh38
NC_000012.11:g.103271149G>C , CM000674.1:g.103271149G>C GRCh37
NC_000012.10:g.101795279G>C NCBI36
NG_008690.1:g.45232C>G
NG_008690.2:g.86040C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+91C>G MANE Select ENSP00000448059.1:n.441+91C>G
ENST00000307000.7:c.426+91C>G ENSP00000303500.2:n.426+91C>G
ENST00000549111.5:n.537+91C>G
ENST00000550978.6:c.516C>G
ENST00000551988.5:n.530+91C>G
ENST00000553106.5:c.441+91C>G ENSP00000448059.1:n.441+91C>G
NM_000277.1:c.441+91C>G NP_000268.1:n.441+91C>G
XM_011538422.1:c.441+91C>G XP_011536724.1:n.441+91C>G
NM_000277.2:c.441+91C>G NP_000268.1:n.441+91C>G
NM_001354304.1:c.441+91C>G NP_001341233.1:n.441+91C>G
XM_017019370.2:c.441+91C>G XP_016874859.1:n.441+91C>G
NM_000277.3:c.441+91C>G MANE Select NP_000268.1:n.441+91C>G
NM_001354304.2:c.441+91C>G NP_001341233.1:n.441+91C>G
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