Canonical Allele Identifier: CA229885

Gene: PAH

Linked Data

• ClinVar Variation Id: 102921
• ClinVar RCV Id: RCV000089187 ; RCV000410321
• dbSNP Id: rs62508573
• gnomAD v2: 12-103238204-G-C
• gnomAD v4: 12-102844426-G-C
• MyVariant Identifiers: chr12:g.103238204G>C (hg19) ; chr12:g.102844426G>C (hg38)
• ERepo: CA229885/MONDO:0009861/006
• PubMed: PMID:9452061 ; PMID:15503242 ; PMID:23430918 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844426G>C , CM000674.2:g.102844426G>C	GRCh38
NC_000012.11:g.103238204G>C , CM000674.1:g.103238204G>C	GRCh37
NC_000012.10:g.101762334G>C	NCBI36
NG_008690.1:g.78177C>G
NG_008690.2:g.118985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.975C>G MANE Select	ENSP00000448059.1:p.Tyr325Ter
ENST00000307000.7:c.960C>G	ENSP00000303500.2:p.Tyr320Ter
ENST00000549247.6:n.734C>G
ENST00000551114.2:n.637C>G
ENST00000553106.5:c.975C>G	ENSP00000448059.1:p.Tyr325Ter
ENST00000635477.1:c.79C>G
ENST00000635528.1:n.490C>G
NM_000277.1:c.975C>G	NP_000268.1:p.Tyr325Ter
XM_011538422.1:c.918C>G	XP_011536724.1:p.Tyr306Ter
NM_000277.2:c.975C>G	NP_000268.1:p.Tyr325Ter
NM_001354304.1:c.975C>G	NP_001341233.1:p.Tyr325Ter
NM_000277.3:c.975C>G MANE Select	NP_000268.1:p.Tyr325Ter
NM_001354304.2:c.975C>G	NP_001341233.1:p.Tyr325Ter