Canonical Allele Identifier: CA607428034
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1454815797
gnomAD v2: 12-103238470-T-A
gnomAD v3: 12-102844692-T-A
gnomAD v4: 12-102844692-T-A
MyVariant Identifiers: chr12:g.103238470T>A (hg19) chr12:g.102844692T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844692T>A , CM000674.2:g.102844692T>A GRCh38
NC_000012.11:g.103238470T>A , CM000674.1:g.103238470T>A GRCh37
NC_000012.10:g.101762600T>A NCBI36
NG_008690.1:g.77911A>T
NG_008690.2:g.118719A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-261A>T MANE Select ENSP00000448059.1:n.970-261A>T
ENST00000307000.7:c.955-261A>T ENSP00000303500.2:n.955-261A>T
ENST00000549247.6:n.729-261A>T
ENST00000551114.2:n.632-261A>T
ENST00000553106.5:c.970-261A>T ENSP00000448059.1:n.970-261A>T
ENST00000635477.1:c.74-261A>T
ENST00000635528.1:n.485-261A>T
NM_000277.1:c.970-261A>T NP_000268.1:n.970-261A>T
XM_011538422.1:c.913-261A>T XP_011536724.1:n.913-261A>T
NM_000277.2:c.970-261A>T NP_000268.1:n.970-261A>T
NM_001354304.1:c.970-261A>T NP_001341233.1:n.970-261A>T
NM_000277.3:c.970-261A>T MANE Select NP_000268.1:n.970-261A>T
NM_001354304.2:c.970-261A>T NP_001341233.1:n.970-261A>T
Search 100 bp 5'
Search 100 bp 3'