Canonical Allele Identifier: CA1930682469

Gene: CRTAC1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.97995216A>G , CM000672.2:g.97995216A>G	GRCh38
NC_000010.10:g.99754973A>G , CM000672.1:g.99754973A>G	GRCh37
NC_000010.9:g.99744963A>G	NCBI36
NG_029831.1:g.40613T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370597.8:c.224+15922T>C MANE Select	ENSP00000359629.3:n.224+15922T>C
ENST00000309155.3:c.200+15922T>C	ENSP00000310810.3:n.200+15922T>C
ENST00000370591.6:c.224+15922T>C	ENSP00000359623.2:n.224+15922T>C
ENST00000370597.7:c.224+15922T>C	ENSP00000359629.3:n.224+15922T>C
NM_001206528.2:c.224+15922T>C	NP_001193457.1:n.224+15922T>C
NM_018058.6:c.224+15922T>C	NP_060528.3:n.224+15922T>C
XM_005269938.3:c.224+15922T>C	XP_005269995.1:n.224+15922T>C
XM_011539917.1:c.224+15922T>C	XP_011538219.1:n.224+15922T>C
XM_005269938.4:c.224+15922T>C	XP_005269995.1:n.224+15922T>C
XM_017016366.1:c.224+15922T>C	XP_016871855.1:n.224+15922T>C
XM_017016367.1:c.224+15922T>C	XP_016871856.1:n.224+15922T>C
NM_018058.7:c.224+15922T>C MANE Select	NP_060528.3:n.224+15922T>C
NM_001206528.3:c.224+15922T>C	NP_001193457.1:n.224+15922T>C