Canonical Allele Identifier: CA414843820

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869509A>G (hg19) ; chrY:g.19707623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707623A>G , CM000686.2:g.19707623A>G	GRCh38
NC_000024.9:g.21869509A>G , CM000686.1:g.21869509A>G	GRCh37
NC_000024.8:g.20328897A>G	NCBI36
NG_032920.1:g.42317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3523T>C MANE Select	ENSP00000322408.4:p.Cys1175Arg
ENST00000317961.8:c.3523T>C	ENSP00000322408.4:p.Cys1175Arg
ENST00000382806.6:c.3352T>C	ENSP00000372256.2:p.Cys1118Arg
ENST00000415360.1:c.439T>C	ENSP00000389433.1:p.Cys147Arg
ENST00000440077.5:c.3400T>C	ENSP00000398543.1:p.Cys1134Arg
ENST00000469599.6:n.2121T>C
ENST00000492117.1:n.3415T>C
ENST00000541639.5:c.3616T>C	ENSP00000444293.1:p.Cys1206Arg
NM_001146705.1:c.3616T>C	NP_001140177.1:p.Cys1206Arg
NM_001146706.1:c.3352T>C	NP_001140178.1:p.Cys1118Arg
NM_004653.4:c.3523T>C	NP_004644.2:p.Cys1175Arg
XM_005262560.1:c.3388T>C	XP_005262617.1:p.Cys1130Arg
XM_005262561.1:c.3292T>C	XP_005262618.1:p.Cys1098Arg
XM_011531468.1:c.3445T>C	XP_011529770.1:p.Cys1149Arg
XR_244571.2:n.3811T>C
XR_430568.2:n.4145T>C
XM_005262560.3:c.3388T>C	XP_005262617.1:p.Cys1130Arg
XM_005262561.3:c.3292T>C	XP_005262618.1:p.Cys1098Arg
XM_011531468.3:c.3445T>C	XP_011529770.1:p.Cys1149Arg
XM_024452495.1:c.1513T>C	XP_024308263.1:p.Cys505Arg
XM_024452496.1:c.1279T>C	XP_024308264.1:p.Cys427Arg
XR_001756009.2:n.4261T>C
XR_001756010.2:n.4261T>C
XR_001756011.2:n.4126T>C
XR_001756012.2:n.4274T>C
XR_001756013.2:n.3592T>C
XR_002958832.1:n.3693T>C
XR_002958834.1:n.3917T>C
XR_002958835.1:n.3800T>C
XR_002958836.1:n.4483T>C
XR_002958837.1:n.4290T>C
XR_244571.4:n.3810T>C
XR_430568.4:n.4144T>C
NM_001146706.2:c.3352T>C	NP_001140178.1:p.Cys1118Arg
NM_004653.5:c.3523T>C MANE Select	NP_004644.2:p.Cys1175Arg
NM_001146705.2:c.3616T>C	NP_001140177.1:p.Cys1206Arg