Canonical Allele Identifier: CA414844259

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869828C>G (hg19) ; chrY:g.19707942C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707942C>G , CM000686.2:g.19707942C>G	GRCh38
NC_000024.9:g.21869828C>G , CM000686.1:g.21869828C>G	GRCh37
NC_000024.8:g.20329216C>G	NCBI36
NG_032920.1:g.41998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3391G>C MANE Select	ENSP00000322408.4:p.Gly1131Arg
ENST00000317961.8:c.3391G>C	ENSP00000322408.4:p.Gly1131Arg
ENST00000382806.6:c.3220G>C	ENSP00000372256.2:p.Gly1074Arg
ENST00000415360.1:c.307G>C	ENSP00000389433.1:p.Gly103Arg
ENST00000440077.5:c.3268G>C	ENSP00000398543.1:p.Gly1090Arg
ENST00000469599.6:n.1989G>C
ENST00000492117.1:n.3283G>C
ENST00000541639.5:c.3484G>C	ENSP00000444293.1:p.Gly1162Arg
NM_001146705.1:c.3484G>C	NP_001140177.1:p.Gly1162Arg
NM_001146706.1:c.3220G>C	NP_001140178.1:p.Gly1074Arg
NM_004653.4:c.3391G>C	NP_004644.2:p.Gly1131Arg
XM_005262560.1:c.3256G>C	XP_005262617.1:p.Gly1086Arg
XM_005262561.1:c.3160G>C	XP_005262618.1:p.Gly1054Arg
XM_011531468.1:c.3313G>C	XP_011529770.1:p.Gly1105Arg
XR_244571.2:n.3679G>C
XR_430568.2:n.4013G>C
XM_005262560.3:c.3256G>C	XP_005262617.1:p.Gly1086Arg
XM_005262561.3:c.3160G>C	XP_005262618.1:p.Gly1054Arg
XM_011531468.3:c.3313G>C	XP_011529770.1:p.Gly1105Arg
XM_024452495.1:c.1381G>C	XP_024308263.1:p.Gly461Arg
XM_024452496.1:c.1147G>C	XP_024308264.1:p.Gly383Arg
XR_001756009.2:n.4129G>C
XR_001756010.2:n.4129G>C
XR_001756011.2:n.3994G>C
XR_001756012.2:n.4142G>C
XR_001756013.2:n.3460G>C
XR_002958832.1:n.3561G>C
XR_002958834.1:n.3785G>C
XR_002958835.1:n.3668G>C
XR_002958836.1:n.4351G>C
XR_002958837.1:n.4158G>C
XR_244571.4:n.3678G>C
XR_430568.4:n.4012G>C
NM_001146706.2:c.3220G>C	NP_001140178.1:p.Gly1074Arg
NM_004653.5:c.3391G>C MANE Select	NP_004644.2:p.Gly1131Arg
NM_001146705.2:c.3484G>C	NP_001140177.1:p.Gly1162Arg