Canonical Allele Identifier: CA414843714

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869479C>G (hg19) ; chrY:g.19707593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707593C>G , CM000686.2:g.19707593C>G	GRCh38
NC_000024.9:g.21869479C>G , CM000686.1:g.21869479C>G	GRCh37
NC_000024.8:g.20328867C>G	NCBI36
NG_032920.1:g.42347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3553G>C MANE Select	ENSP00000322408.4:p.Gly1185Arg
ENST00000317961.8:c.3553G>C	ENSP00000322408.4:p.Gly1185Arg
ENST00000382806.6:c.3382G>C	ENSP00000372256.2:p.Gly1128Arg
ENST00000415360.1:c.469G>C	ENSP00000389433.1:p.Gly157Arg
ENST00000440077.5:c.3430G>C	ENSP00000398543.1:p.Gly1144Arg
ENST00000469599.6:n.2151G>C
ENST00000492117.1:n.3445G>C
ENST00000541639.5:c.3646G>C	ENSP00000444293.1:p.Gly1216Arg
NM_001146705.1:c.3646G>C	NP_001140177.1:p.Gly1216Arg
NM_001146706.1:c.3382G>C	NP_001140178.1:p.Gly1128Arg
NM_004653.4:c.3553G>C	NP_004644.2:p.Gly1185Arg
XM_005262560.1:c.3418G>C	XP_005262617.1:p.Gly1140Arg
XM_005262561.1:c.3322G>C	XP_005262618.1:p.Gly1108Arg
XM_011531468.1:c.3475G>C	XP_011529770.1:p.Gly1159Arg
XR_244571.2:n.3841G>C
XR_430568.2:n.4175G>C
XM_005262560.3:c.3418G>C	XP_005262617.1:p.Gly1140Arg
XM_005262561.3:c.3322G>C	XP_005262618.1:p.Gly1108Arg
XM_011531468.3:c.3475G>C	XP_011529770.1:p.Gly1159Arg
XM_024452495.1:c.1543G>C	XP_024308263.1:p.Gly515Arg
XM_024452496.1:c.1309G>C	XP_024308264.1:p.Gly437Arg
XR_001756009.2:n.4291G>C
XR_001756010.2:n.4291G>C
XR_001756011.2:n.4156G>C
XR_001756012.2:n.4304G>C
XR_001756013.2:n.3622G>C
XR_002958832.1:n.3723G>C
XR_002958834.1:n.3947G>C
XR_002958835.1:n.3830G>C
XR_002958836.1:n.4513G>C
XR_002958837.1:n.4320G>C
XR_244571.4:n.3840G>C
XR_430568.4:n.4174G>C
NM_001146706.2:c.3382G>C	NP_001140178.1:p.Gly1128Arg
NM_004653.5:c.3553G>C MANE Select	NP_004644.2:p.Gly1185Arg
NM_001146705.2:c.3646G>C	NP_001140177.1:p.Gly1216Arg