Canonical Allele Identifier: CA16020960

Gene: PAH

Linked Data

• ClinVar Variation Id: 1810393
• ClinVar RCV Id: RCV002509880
• dbSNP Id: rs62509015
• gnomAD v4: 12-102843645-C-A
• MyVariant Identifiers: chr12:g.103237423C>A (hg19) ; chr12:g.102843645C>A (hg38)
• ERepo: CA16020960/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843645C>A , CM000674.2:g.102843645C>A	GRCh38
NC_000012.11:g.103237423C>A , CM000674.1:g.103237423C>A	GRCh37
NC_000012.10:g.101761553C>A	NCBI36
NG_008690.1:g.78958G>T
NG_008690.2:g.119766G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1199+1G>T MANE Select	ENSP00000448059.1:n.1199+1G>T
ENST00000307000.7:c.1184+1G>T	ENSP00000303500.2:n.1184+1G>T
ENST00000549247.6:n.958+1G>T
ENST00000551114.2:n.861+1G>T
ENST00000553106.5:c.1199+1G>T	ENSP00000448059.1:n.1199+1G>T
ENST00000635477.1:c.303+1G>T
ENST00000635528.1:n.714+1G>T
NM_000277.1:c.1199+1G>T	NP_000268.1:n.1199+1G>T
XM_011538422.1:c.1142+1G>T	XP_011536724.1:n.1142+1G>T
NM_000277.2:c.1199+1G>T	NP_000268.1:n.1199+1G>T
NM_001354304.1:c.1199+1G>T	NP_001341233.1:n.1199+1G>T
NM_000277.3:c.1199+1G>T MANE Select	NP_000268.1:n.1199+1G>T
NM_001354304.2:c.1199+1G>T	NP_001341233.1:n.1199+1G>T