Canonical Allele Identifier: CA6748854

Gene: PAH

Linked Data

• dbSNP Id: rs374228470
• ExAC: 12:103246756 A / C
• gnomAD v2: 12-103246756-A-C
• gnomAD v3: 12-102852978-A-C
• gnomAD v4: 12-102852978-A-C
• MyVariant Identifiers: chr12:g.103246756A>C (hg19) ; chr12:g.102852978A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852978A>C , CM000674.2:g.102852978A>C	GRCh38
NC_000012.11:g.103246756A>C , CM000674.1:g.103246756A>C	GRCh37
NC_000012.10:g.101770886A>C	NCBI36
NG_008690.1:g.69625T>G
NG_008690.2:g.110433T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.707-28T>G MANE Select	ENSP00000448059.1:n.707-28T>G
ENST00000307000.7:c.692-28T>G	ENSP00000303500.2:n.692-28T>G
ENST00000549247.6:n.438T>G
ENST00000553106.5:c.707-28T>G	ENSP00000448059.1:n.707-28T>G
NM_000277.1:c.707-28T>G	NP_000268.1:n.707-28T>G
XM_011538422.1:c.707-28T>G	XP_011536724.1:n.707-28T>G
NM_000277.2:c.707-28T>G	NP_000268.1:n.707-28T>G
NM_001354304.1:c.707-28T>G	NP_001341233.1:n.707-28T>G
NM_000277.3:c.707-28T>G MANE Select	NP_000268.1:n.707-28T>G
NM_001354304.2:c.707-28T>G	NP_001341233.1:n.707-28T>G