Canonical Allele Identifier: CA229891

Gene: PAH

Linked Data

• ClinVar Variation Id: 102923
• ClinVar RCV Id: RCV000089190 ; RCV001854516
• dbSNP Id: rs199475616
• ExAC: 12:103238197 T / C
• gnomAD v2: 12-103238197-T-C
• gnomAD v4: 12-102844419-T-C
• MyVariant Identifiers: chr12:g.103238197T>C (hg19) ; chr12:g.102844419T>C (hg38)
• ERepo: CA229891/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844419T>C , CM000674.2:g.102844419T>C	GRCh38
NC_000012.11:g.103238197T>C , CM000674.1:g.103238197T>C	GRCh37
NC_000012.10:g.101762327T>C	NCBI36
NG_008690.1:g.78184A>G
NG_008690.2:g.118992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.982A>G MANE Select	ENSP00000448059.1:p.Thr328Ala
ENST00000307000.7:c.967A>G	ENSP00000303500.2:p.Thr323Ala
ENST00000549247.6:n.741A>G
ENST00000551114.2:n.644A>G
ENST00000553106.5:c.982A>G	ENSP00000448059.1:p.Thr328Ala
ENST00000635477.1:c.86A>G
ENST00000635528.1:n.497A>G
NM_000277.1:c.982A>G	NP_000268.1:p.Thr328Ala
XM_011538422.1:c.925A>G	XP_011536724.1:p.Thr309Ala
NM_000277.2:c.982A>G	NP_000268.1:p.Thr328Ala
NM_001354304.1:c.982A>G	NP_001341233.1:p.Thr328Ala
NM_000277.3:c.982A>G MANE Select	NP_000268.1:p.Thr328Ala
NM_001354304.2:c.982A>G	NP_001341233.1:p.Thr328Ala