Canonical Allele Identifier: CA2601918539

Gene: PAH

Linked Data

• dbSNP Id: rs2136644037
• gnomAD v3: 12-102850998-T-C
• gnomAD v4: 12-102850998-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102850998T>C , CM000674.2:g.102850998T>C	GRCh38
NC_000012.11:g.103244776T>C , CM000674.1:g.103244776T>C	GRCh37
NC_000012.10:g.101768906T>C	NCBI36
NG_008690.1:g.71605A>G
NG_008690.2:g.112413A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+689A>G MANE Select	ENSP00000448059.1:n.912+689A>G
ENST00000307000.7:c.897+689A>G	ENSP00000303500.2:n.897+689A>G
ENST00000549247.6:n.671+689A>G
ENST00000551114.2:n.574+689A>G
ENST00000553106.5:c.912+689A>G	ENSP00000448059.1:n.912+689A>G
ENST00000635477.1:c.73+689A>G
NM_000277.1:c.912+689A>G	NP_000268.1:n.912+689A>G
XM_011538422.1:c.912+689A>G	XP_011536724.1:n.912+689A>G
NM_000277.2:c.912+689A>G	NP_000268.1:n.912+689A>G
NM_001354304.1:c.912+689A>G	NP_001341233.1:n.912+689A>G
NM_000277.3:c.912+689A>G MANE Select	NP_000268.1:n.912+689A>G
NM_001354304.2:c.912+689A>G	NP_001341233.1:n.912+689A>G