Canonical Allele Identifier: CA16020979

Gene: PAH

Linked Data

• ClinVar Variation Id: 1693245
• ClinVar RCV Id: RCV002260504
• dbSNP Id: rs2136632085
• MyVariant Identifiers: chr12:g.103234249T>A (hg19) ; chr12:g.102840471T>A (hg38)
• ERepo: CA16020979/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840471T>A , CM000674.2:g.102840471T>A	GRCh38
NC_000012.11:g.103234249T>A , CM000674.1:g.103234249T>A	GRCh37
NC_000012.10:g.101758379T>A	NCBI36
NG_008690.1:g.82132A>T
NG_008690.2:g.122940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1244A>T MANE Select	ENSP00000448059.1:p.Asp415Val
ENST00000307000.7:c.1229A>T	ENSP00000303500.2:p.Asp410Val
ENST00000551114.2:n.906A>T
ENST00000553106.5:c.1244A>T	ENSP00000448059.1:p.Asp415Val
ENST00000635477.1:c.348A>T
ENST00000635528.1:n.759A>T
NM_000277.1:c.1244A>T	NP_000268.1:p.Asp415Val
XM_011538422.1:c.1187A>T	XP_011536724.1:p.Asp396Val
NM_000277.2:c.1244A>T	NP_000268.1:p.Asp415Val
NM_001354304.1:c.1244A>T	NP_001341233.1:p.Asp415Val
NM_000277.3:c.1244A>T MANE Select	NP_000268.1:p.Asp415Val
NM_001354304.2:c.1244A>T	NP_001341233.1:p.Asp415Val