Canonical Allele Identifier: CA2620525864
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854947-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854947C>A , CM000674.2:g.102854947C>A GRCh38
NC_000012.11:g.103248725C>A , CM000674.1:g.103248725C>A GRCh37
NC_000012.10:g.101772855C>A NCBI36
NG_008690.1:g.67656G>T
NG_008690.2:g.108464G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+189G>T MANE Select ENSP00000448059.1:n.706+189G>T
ENST00000307000.7:c.691+189G>T ENSP00000303500.2:n.691+189G>T
ENST00000549111.5:n.991G>T
ENST00000553106.5:c.706+189G>T ENSP00000448059.1:n.706+189G>T
NM_000277.1:c.706+189G>T NP_000268.1:n.706+189G>T
XM_011538422.1:c.706+189G>T XP_011536724.1:n.706+189G>T
NM_000277.2:c.706+189G>T NP_000268.1:n.706+189G>T
NM_001354304.1:c.706+189G>T NP_001341233.1:n.706+189G>T
XM_017019370.2:c.707-146G>T XP_016874859.1:n.707-146G>T
NM_000277.3:c.706+189G>T MANE Select NP_000268.1:n.706+189G>T
NM_001354304.2:c.706+189G>T NP_001341233.1:n.706+189G>T
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