Canonical Allele Identifier: CA2992582709

Gene: AHCYL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110012496T>C , CM000663.2:g.110012496T>C	GRCh38
NC_000001.10:g.110555118T>C , CM000663.1:g.110555118T>C	GRCh37
NC_000001.9:g.110356641T>C	NCBI36
NG_029182.1:g.32733T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006621.7:c.477+34T>C MANE Select	NP_006612.2:n.477+34T>C
ENST00000369799.10:c.477+34T>C MANE Select	ENSP00000358814.5:n.477+34T>C
NM_001242673.1:c.336+34T>C	NP_001229602.1:n.336+34T>C
NM_001242673.2:c.336+34T>C	NP_001229602.1:n.336+34T>C
NM_001242674.1:c.336+34T>C	NP_001229603.1:n.336+34T>C
NM_001242674.2:c.336+34T>C	NP_001229603.1:n.336+34T>C
NM_001242675.1:c.336+34T>C	NP_001229604.1:n.336+34T>C
NM_001242675.2:c.336+34T>C	NP_001229604.1:n.336+34T>C
NM_001242676.1:c.336+34T>C	NP_001229605.1:n.336+34T>C
NM_001242676.2:c.336+34T>C	NP_001229605.1:n.336+34T>C
NM_006621.5:c.477+34T>C	NP_006612.2:n.477+34T>C
NM_006621.6:c.477+34T>C	NP_006612.2:n.477+34T>C
ENST00000359172.3:c.336+34T>C	ENSP00000352092.3:n.336+34T>C
ENST00000369799.9:c.477+34T>C	ENSP00000358814.5:n.477+34T>C
ENST00000393614.8:c.336+34T>C	ENSP00000377238.4:n.336+34T>C
ENST00000475081.1:n.490+34T>C
XM_011540535.1:c.477+34T>C	XP_011538837.1:n.477+34T>C
XM_011540535.2:c.477+34T>C	XP_011538837.1:n.477+34T>C
XR_001736934.2:n.479+34T>C
XR_001736935.1:n.935+34T>C
XR_946527.1:n.789+34T>C
XR_946527.2:n.479+34T>C