Canonical Allele Identifier: CA682823606

Gene: PAH

Linked Data

• dbSNP Id: rs1473646168
• gnomAD v3: 12-102844564-T-C
• gnomAD v4: 12-102844564-T-C
• MyVariant Identifiers: chr12:g.103238342T>C (hg19) ; chr12:g.102844564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844564T>C , CM000674.2:g.102844564T>C	GRCh38
NC_000012.11:g.103238342T>C , CM000674.1:g.103238342T>C	GRCh37
NC_000012.10:g.101762472T>C	NCBI36
NG_008690.1:g.78039A>G
NG_008690.2:g.118847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-133A>G MANE Select	ENSP00000448059.1:n.970-133A>G
ENST00000307000.7:c.955-133A>G	ENSP00000303500.2:n.955-133A>G
ENST00000549247.6:n.729-133A>G
ENST00000551114.2:n.632-133A>G
ENST00000553106.5:c.970-133A>G	ENSP00000448059.1:n.970-133A>G
ENST00000635477.1:c.74-133A>G
ENST00000635528.1:n.485-133A>G
NM_000277.1:c.970-133A>G	NP_000268.1:n.970-133A>G
XM_011538422.1:c.913-133A>G	XP_011536724.1:n.913-133A>G
NM_000277.2:c.970-133A>G	NP_000268.1:n.970-133A>G
NM_001354304.1:c.970-133A>G	NP_001341233.1:n.970-133A>G
NM_000277.3:c.970-133A>G MANE Select	NP_000268.1:n.970-133A>G
NM_001354304.2:c.970-133A>G	NP_001341233.1:n.970-133A>G