Canonical Allele Identifier: CA229418

Gene: PAH

Linked Data

• ClinVar Variation Id: 102580
• ClinVar RCV Id: RCV000088818 ; RCV000672448
• dbSNP Id: rs62644501
• gnomAD v2: 12-103234241-T-G
• gnomAD v3: 12-102840463-T-G
• gnomAD v4: 12-102840463-T-G
• MyVariant Identifiers: chr12:g.103234241T>G (hg19) ; chr12:g.102840463T>G (hg38)
• ERepo: CA229418/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840463T>G , CM000674.2:g.102840463T>G	GRCh38
NC_000012.11:g.103234241T>G , CM000674.1:g.103234241T>G	GRCh37
NC_000012.10:g.101758371T>G	NCBI36
NG_008690.1:g.82140A>C
NG_008690.2:g.122948A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1252A>C MANE Select	ENSP00000448059.1:p.Thr418Pro
ENST00000307000.7:c.1237A>C	ENSP00000303500.2:p.Thr413Pro
ENST00000551114.2:n.914A>C
ENST00000553106.5:c.1252A>C	ENSP00000448059.1:p.Thr418Pro
ENST00000635477.1:c.356A>C
ENST00000635528.1:n.767A>C
NM_000277.1:c.1252A>C	NP_000268.1:p.Thr418Pro
XM_011538422.1:c.1195A>C	XP_011536724.1:p.Thr399Pro
NM_000277.2:c.1252A>C	NP_000268.1:p.Thr418Pro
NM_001354304.1:c.1252A>C	NP_001341233.1:p.Thr418Pro
NM_000277.3:c.1252A>C MANE Select	NP_000268.1:p.Thr418Pro
NM_001354304.2:c.1252A>C	NP_001341233.1:p.Thr418Pro