Canonical Allele Identifier: CA2059466462

Gene: PAH

Linked Data

• dbSNP Id: rs1877417861
• gnomAD v4: 12-102894638-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894638T>G , CM000674.2:g.102894638T>G	GRCh38
NC_000012.11:g.103288416T>G , CM000674.1:g.103288416T>G	GRCh37
NC_000012.10:g.101812546T>G	NCBI36
NG_008690.1:g.27965A>C
NG_008690.2:g.68773A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.352+97A>C MANE Select	ENSP00000448059.1:n.352+97A>C
ENST00000307000.7:c.337+97A>C	ENSP00000303500.2:n.337+97A>C
ENST00000548928.1:n.274+97A>C
ENST00000549111.5:n.448+97A>C
ENST00000550978.6:c.336+97A>C
ENST00000551337.5:c.352+97A>C	ENSP00000447620.1:n.352+97A>C
ENST00000551988.5:n.441+97A>C
ENST00000553106.5:c.352+97A>C	ENSP00000448059.1:n.352+97A>C
NM_000277.1:c.352+97A>C	NP_000268.1:n.352+97A>C
XM_011538422.1:c.352+97A>C	XP_011536724.1:n.352+97A>C
NM_000277.2:c.352+97A>C	NP_000268.1:n.352+97A>C
NM_001354304.1:c.352+97A>C	NP_001341233.1:n.352+97A>C
XM_017019370.2:c.352+97A>C	XP_016874859.1:n.352+97A>C
NM_000277.3:c.352+97A>C MANE Select	NP_000268.1:n.352+97A>C
NM_001354304.2:c.352+97A>C	NP_001341233.1:n.352+97A>C