Canonical Allele Identifier: CA229608

Gene: PAH

Linked Data

• ClinVar Variation Id: 102725
• ClinVar RCV Id: RCV000088973 ; RCV001854513
• dbSNP Id: rs74486803
• MyVariant Identifiers: chr12:g.103249093C>G (hg19) ; chr12:g.102855315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855315C>G , CM000674.2:g.102855315C>G	GRCh38
NC_000012.11:g.103249093C>G , CM000674.1:g.103249093C>G	GRCh37
NC_000012.10:g.101773223C>G	NCBI36
NG_008690.1:g.67288G>C
NG_008690.2:g.108096G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.527G>C MANE Select	ENSP00000448059.1:p.Arg176Pro
ENST00000307000.7:c.512G>C	ENSP00000303500.2:p.Arg171Pro
ENST00000549111.5:n.623G>C
ENST00000551988.5:n.548G>C
ENST00000553106.5:c.527G>C	ENSP00000448059.1:p.Arg176Pro
NM_000277.1:c.527G>C	NP_000268.1:p.Arg176Pro
XM_011538422.1:c.527G>C	XP_011536724.1:p.Arg176Pro
NM_000277.2:c.527G>C	NP_000268.1:p.Arg176Pro
NM_001354304.1:c.527G>C	NP_001341233.1:p.Arg176Pro
XM_017019370.2:c.527G>C	XP_016874859.1:p.Arg176Pro
NM_000277.3:c.527G>C MANE Select	NP_000268.1:p.Arg176Pro
NM_001354304.2:c.527G>C	NP_001341233.1:p.Arg176Pro