Canonical Allele Identifier: CA607153725

Gene: PAH

Linked Data

• dbSNP Id: rs1439238957
• gnomAD v2: 12-103240805-A-G
• gnomAD v3: 12-102847027-A-G
• gnomAD v4: 12-102847027-A-G
• MyVariant Identifiers: chr12:g.103240805A>G (hg19) ; chr12:g.102847027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847027A>G , CM000674.2:g.102847027A>G	GRCh38
NC_000012.11:g.103240805A>G , CM000674.1:g.103240805A>G	GRCh37
NC_000012.10:g.101764935A>G	NCBI36
NG_008690.1:g.75576T>C
NG_008690.2:g.116384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-76T>C MANE Select	ENSP00000448059.1:n.913-76T>C
ENST00000307000.7:c.898-76T>C	ENSP00000303500.2:n.898-76T>C
ENST00000549247.6:n.672-76T>C
ENST00000551114.2:n.575-76T>C
ENST00000553106.5:c.913-76T>C	ENSP00000448059.1:n.913-76T>C
ENST00000635477.1:c.74-2596T>C
ENST00000635528.1:n.352T>C
NM_000277.1:c.913-76T>C	NP_000268.1:n.913-76T>C
XM_011538422.1:c.913-2596T>C	XP_011536724.1:n.913-2596T>C
NM_000277.2:c.913-76T>C	NP_000268.1:n.913-76T>C
NM_001354304.1:c.913-76T>C	NP_001341233.1:n.913-76T>C
NM_000277.3:c.913-76T>C MANE Select	NP_000268.1:n.913-76T>C
NM_001354304.2:c.913-76T>C	NP_001341233.1:n.913-76T>C