Canonical Allele Identifier: CA229420

Gene: PAH

Linked Data

• ClinVar Variation Id: 102582
• ClinVar RCV Id: RCV000088820 ; RCV001388783
• dbSNP Id: rs199475696
• ExAC: 12:103234231 A / G
• gnomAD v2: 12-103234231-A-G
• gnomAD v4: 12-102840453-A-G
• COSMIC: COSM3383976
• MyVariant Identifiers: chr12:g.103234231A>G (hg19) ; chr12:g.102840453A>G (hg38)
• ERepo: CA229420/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840453A>G , CM000674.2:g.102840453A>G	GRCh38
NC_000012.11:g.103234231A>G , CM000674.1:g.103234231A>G	GRCh37
NC_000012.10:g.101758361A>G	NCBI36
NG_008690.1:g.82150T>C
NG_008690.2:g.122958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1262T>C MANE Select	ENSP00000448059.1:p.Ile421Thr
ENST00000307000.7:c.1247T>C	ENSP00000303500.2:p.Ile416Thr
ENST00000551114.2:n.924T>C
ENST00000553106.5:c.1262T>C	ENSP00000448059.1:p.Ile421Thr
ENST00000635477.1:c.366T>C
ENST00000635528.1:n.777T>C
NM_000277.1:c.1262T>C	NP_000268.1:p.Ile421Thr
XM_011538422.1:c.1205T>C	XP_011536724.1:p.Ile402Thr
NM_000277.2:c.1262T>C	NP_000268.1:p.Ile421Thr
NM_001354304.1:c.1262T>C	NP_001341233.1:p.Ile421Thr
NM_000277.3:c.1262T>C MANE Select	NP_000268.1:p.Ile421Thr
NM_001354304.2:c.1262T>C	NP_001341233.1:p.Ile421Thr