Canonical Allele Identifier: CA414843547

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869440C>G (hg19) ; chrY:g.19707554C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707554C>G , CM000686.2:g.19707554C>G	GRCh38
NC_000024.9:g.21869440C>G , CM000686.1:g.21869440C>G	GRCh37
NC_000024.8:g.20328828C>G	NCBI36
NG_032920.1:g.42386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3592G>C MANE Select	ENSP00000322408.4:p.Gly1198Arg
ENST00000317961.8:c.3592G>C	ENSP00000322408.4:p.Gly1198Arg
ENST00000382806.6:c.3421G>C	ENSP00000372256.2:p.Gly1141Arg
ENST00000415360.1:c.508G>C	ENSP00000389433.1:p.Gly170Arg
ENST00000440077.5:c.3469G>C	ENSP00000398543.1:p.Gly1157Arg
ENST00000469599.6:n.2190G>C
ENST00000492117.1:n.3484G>C
ENST00000541639.5:c.3685G>C	ENSP00000444293.1:p.Gly1229Arg
NM_001146705.1:c.3685G>C	NP_001140177.1:p.Gly1229Arg
NM_001146706.1:c.3421G>C	NP_001140178.1:p.Gly1141Arg
NM_004653.4:c.3592G>C	NP_004644.2:p.Gly1198Arg
XM_005262560.1:c.3457G>C	XP_005262617.1:p.Gly1153Arg
XM_005262561.1:c.3361G>C	XP_005262618.1:p.Gly1121Arg
XM_011531468.1:c.3514G>C	XP_011529770.1:p.Gly1172Arg
XR_244571.2:n.3880G>C
XR_430568.2:n.4214G>C
XM_005262560.3:c.3457G>C	XP_005262617.1:p.Gly1153Arg
XM_005262561.3:c.3361G>C	XP_005262618.1:p.Gly1121Arg
XM_011531468.3:c.3514G>C	XP_011529770.1:p.Gly1172Arg
XM_024452495.1:c.1582G>C	XP_024308263.1:p.Gly528Arg
XM_024452496.1:c.1348G>C	XP_024308264.1:p.Gly450Arg
XR_001756009.2:n.4330G>C
XR_001756010.2:n.4330G>C
XR_001756011.2:n.4195G>C
XR_001756012.2:n.4343G>C
XR_001756013.2:n.3661G>C
XR_002958832.1:n.3762G>C
XR_002958834.1:n.3986G>C
XR_002958835.1:n.3869G>C
XR_002958836.1:n.4552G>C
XR_002958837.1:n.4359G>C
XR_244571.4:n.3879G>C
XR_430568.4:n.4213G>C
NM_001146706.2:c.3421G>C	NP_001140178.1:p.Gly1141Arg
NM_004653.5:c.3592G>C MANE Select	NP_004644.2:p.Gly1198Arg
NM_001146705.2:c.3685G>C	NP_001140177.1:p.Gly1229Arg