Canonical Allele Identifier: CA6748753

Gene: PAH

Linked Data

• dbSNP Id: rs549833778
• ExAC: 12:103237579 T / C
• gnomAD v2: 12-103237579-T-C
• gnomAD v3: 12-102843801-T-C
• gnomAD v4: 12-102843801-T-C
• MyVariant Identifiers: chr12:g.103237579T>C (hg19) ; chr12:g.102843801T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843801T>C , CM000674.2:g.102843801T>C	GRCh38
NC_000012.11:g.103237579T>C , CM000674.1:g.103237579T>C	GRCh37
NC_000012.10:g.101761709T>C	NCBI36
NG_008690.1:g.78802A>G
NG_008690.2:g.119610A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1066-22A>G MANE Select	ENSP00000448059.1:n.1066-22A>G
ENST00000307000.7:c.1051-22A>G	ENSP00000303500.2:n.1051-22A>G
ENST00000549247.6:n.825-22A>G
ENST00000551114.2:n.728-22A>G
ENST00000553106.5:c.1066-22A>G	ENSP00000448059.1:n.1066-22A>G
ENST00000635477.1:c.170-22A>G
ENST00000635528.1:n.581-22A>G
NM_000277.1:c.1066-22A>G	NP_000268.1:n.1066-22A>G
XM_011538422.1:c.1009-22A>G	XP_011536724.1:n.1009-22A>G
NM_000277.2:c.1066-22A>G	NP_000268.1:n.1066-22A>G
NM_001354304.1:c.1066-22A>G	NP_001341233.1:n.1066-22A>G
NM_000277.3:c.1066-22A>G MANE Select	NP_000268.1:n.1066-22A>G
NM_001354304.2:c.1066-22A>G	NP_001341233.1:n.1066-22A>G