Canonical Allele Identifier: CA242466091

Gene: PAH

Linked Data

• dbSNP Id: rs758670608
• gnomAD v2: 12-103240828-C-T
• gnomAD v4: 12-102847050-C-T
• MyVariant Identifiers: chr12:g.103240828C>T (hg19) ; chr12:g.102847050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847050C>T , CM000674.2:g.102847050C>T	GRCh38
NC_000012.11:g.103240828C>T , CM000674.1:g.103240828C>T	GRCh37
NC_000012.10:g.101764958C>T	NCBI36
NG_008690.1:g.75553G>A
NG_008690.2:g.116361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-99G>A MANE Select	ENSP00000448059.1:n.913-99G>A
ENST00000307000.7:c.898-99G>A	ENSP00000303500.2:n.898-99G>A
ENST00000549247.6:n.672-99G>A
ENST00000551114.2:n.575-99G>A
ENST00000553106.5:c.913-99G>A	ENSP00000448059.1:n.913-99G>A
ENST00000635477.1:c.74-2619G>A
ENST00000635528.1:n.329G>A
NM_000277.1:c.913-99G>A	NP_000268.1:n.913-99G>A
XM_011538422.1:c.913-2619G>A	XP_011536724.1:n.913-2619G>A
NM_000277.2:c.913-99G>A	NP_000268.1:n.913-99G>A
NM_001354304.1:c.913-99G>A	NP_001341233.1:n.913-99G>A
NM_000277.3:c.913-99G>A MANE Select	NP_000268.1:n.913-99G>A
NM_001354304.2:c.913-99G>A	NP_001341233.1:n.913-99G>A