Canonical Allele Identifier: CA2059448928

Gene: PAH

Linked Data

• dbSNP Id: rs1072528

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844626C>A , CM000674.2:g.102844626C>A	GRCh38
NC_000012.11:g.103238404C>A , CM000674.1:g.103238404C>A	GRCh37
NC_000012.10:g.101762534C>A	NCBI36
NG_008690.1:g.77977G>T
NG_008690.2:g.118785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.970-195G>T MANE Select	ENSP00000448059.1:n.970-195G>T
ENST00000307000.7:c.955-195G>T	ENSP00000303500.2:n.955-195G>T
ENST00000549247.6:n.729-195G>T
ENST00000551114.2:n.632-195G>T
ENST00000553106.5:c.970-195G>T	ENSP00000448059.1:n.970-195G>T
ENST00000635477.1:c.74-195G>T
ENST00000635528.1:n.485-195G>T
NM_000277.1:c.970-195G>T	NP_000268.1:n.970-195G>T
XM_011538422.1:c.913-195G>T	XP_011536724.1:n.913-195G>T
NM_000277.2:c.970-195G>T	NP_000268.1:n.970-195G>T
NM_001354304.1:c.970-195G>T	NP_001341233.1:n.970-195G>T
NM_000277.3:c.970-195G>T MANE Select	NP_000268.1:n.970-195G>T
NM_001354304.2:c.970-195G>T	NP_001341233.1:n.970-195G>T