Canonical Allele Identifier: CA414844136

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869614C>G (hg19) ; chrY:g.19707728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707728C>G , CM000686.2:g.19707728C>G	GRCh38
NC_000024.9:g.21869614C>G , CM000686.1:g.21869614C>G	GRCh37
NC_000024.8:g.20329002C>G	NCBI36
NG_032920.1:g.42212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3418G>C MANE Select	ENSP00000322408.4:p.Gly1140Arg
ENST00000317961.8:c.3418G>C	ENSP00000322408.4:p.Gly1140Arg
ENST00000382806.6:c.3247G>C	ENSP00000372256.2:p.Gly1083Arg
ENST00000415360.1:c.334G>C	ENSP00000389433.1:p.Gly112Arg
ENST00000440077.5:c.3295G>C	ENSP00000398543.1:p.Gly1099Arg
ENST00000469599.6:n.2016G>C
ENST00000492117.1:n.3310G>C
ENST00000541639.5:c.3511G>C	ENSP00000444293.1:p.Gly1171Arg
NM_001146705.1:c.3511G>C	NP_001140177.1:p.Gly1171Arg
NM_001146706.1:c.3247G>C	NP_001140178.1:p.Gly1083Arg
NM_004653.4:c.3418G>C	NP_004644.2:p.Gly1140Arg
XM_005262560.1:c.3283G>C	XP_005262617.1:p.Gly1095Arg
XM_005262561.1:c.3187G>C	XP_005262618.1:p.Gly1063Arg
XM_011531468.1:c.3340G>C	XP_011529770.1:p.Gly1114Arg
XR_244571.2:n.3706G>C
XR_430568.2:n.4040G>C
XM_005262560.3:c.3283G>C	XP_005262617.1:p.Gly1095Arg
XM_005262561.3:c.3187G>C	XP_005262618.1:p.Gly1063Arg
XM_011531468.3:c.3340G>C	XP_011529770.1:p.Gly1114Arg
XM_024452495.1:c.1408G>C	XP_024308263.1:p.Gly470Arg
XM_024452496.1:c.1174G>C	XP_024308264.1:p.Gly392Arg
XR_001756009.2:n.4156G>C
XR_001756010.2:n.4156G>C
XR_001756011.2:n.4021G>C
XR_001756012.2:n.4169G>C
XR_001756013.2:n.3487G>C
XR_002958832.1:n.3588G>C
XR_002958834.1:n.3812G>C
XR_002958835.1:n.3695G>C
XR_002958836.1:n.4378G>C
XR_002958837.1:n.4185G>C
XR_244571.4:n.3705G>C
XR_430568.4:n.4039G>C
NM_001146706.2:c.3247G>C	NP_001140178.1:p.Gly1083Arg
NM_004653.5:c.3418G>C MANE Select	NP_004644.2:p.Gly1140Arg
NM_001146705.2:c.3511G>C	NP_001140177.1:p.Gly1171Arg