Canonical Allele Identifier: CA386295864

Gene: PAH

Linked Data

• gnomAD v4: 12-102852951-C-A
• MyVariant Identifiers: chr12:g.103246729C>A (hg19) ; chr12:g.102852951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852951C>A , CM000674.2:g.102852951C>A	GRCh38
NC_000012.11:g.103246729C>A , CM000674.1:g.103246729C>A	GRCh37
NC_000012.10:g.101770859C>A	NCBI36
NG_008690.1:g.69652G>T
NG_008690.2:g.110460G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.707-1G>T MANE Select	ENSP00000448059.1:n.707-1G>T
ENST00000307000.7:c.692-1G>T	ENSP00000303500.2:n.692-1G>T
ENST00000549247.6:n.465G>T
ENST00000553106.5:c.707-1G>T	ENSP00000448059.1:n.707-1G>T
NM_000277.1:c.707-1G>T	NP_000268.1:n.707-1G>T
XM_011538422.1:c.707-1G>T	XP_011536724.1:n.707-1G>T
NM_000277.2:c.707-1G>T	NP_000268.1:n.707-1G>T
NM_001354304.1:c.707-1G>T	NP_001341233.1:n.707-1G>T
NM_000277.3:c.707-1G>T MANE Select	NP_000268.1:n.707-1G>T
NM_001354304.2:c.707-1G>T	NP_001341233.1:n.707-1G>T