Canonical Allele Identifier: CA6748895
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs745723155
ExAC: 12:103249081 A / C
gnomAD v2: 12-103249081-A-C
gnomAD v4: 12-102855303-A-C
MyVariant Identifiers: chr12:g.103249081A>C (hg19) chr12:g.102855303A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855303A>C , CM000674.2:g.102855303A>C GRCh38
NC_000012.11:g.103249081A>C , CM000674.1:g.103249081A>C GRCh37
NC_000012.10:g.101773211A>C NCBI36
NG_008690.1:g.67300T>G
NG_008690.2:g.108108T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.539T>G MANE Select ENSP00000448059.1:p.Met180Arg
ENST00000307000.7:c.524T>G ENSP00000303500.2:p.Met175Arg
ENST00000549111.5:n.635T>G
ENST00000551988.5:n.560T>G
ENST00000553106.5:c.539T>G ENSP00000448059.1:p.Met180Arg
NM_000277.1:c.539T>G NP_000268.1:p.Met180Arg
XM_011538422.1:c.539T>G XP_011536724.1:p.Met180Arg
NM_000277.2:c.539T>G NP_000268.1:p.Met180Arg
NM_001354304.1:c.539T>G NP_001341233.1:p.Met180Arg
XM_017019370.2:c.539T>G XP_016874859.1:p.Met180Arg
NM_000277.3:c.539T>G MANE Select NP_000268.1:p.Met180Arg
NM_001354304.2:c.539T>G NP_001341233.1:p.Met180Arg
Search 100 bp 5'
Search 100 bp 3'