Canonical Allele Identifier: CA414843540

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869439C>G (hg19) ; chrY:g.19707553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707553C>G , CM000686.2:g.19707553C>G	GRCh38
NC_000024.9:g.21869439C>G , CM000686.1:g.21869439C>G	GRCh37
NC_000024.8:g.20328827C>G	NCBI36
NG_032920.1:g.42387G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3593G>C MANE Select	ENSP00000322408.4:p.Gly1198Ala
ENST00000317961.8:c.3593G>C	ENSP00000322408.4:p.Gly1198Ala
ENST00000382806.6:c.3422G>C	ENSP00000372256.2:p.Gly1141Ala
ENST00000415360.1:c.509G>C	ENSP00000389433.1:p.Gly170Ala
ENST00000440077.5:c.3470G>C	ENSP00000398543.1:p.Gly1157Ala
ENST00000469599.6:n.2191G>C
ENST00000492117.1:n.3485G>C
ENST00000541639.5:c.3686G>C	ENSP00000444293.1:p.Gly1229Ala
NM_001146705.1:c.3686G>C	NP_001140177.1:p.Gly1229Ala
NM_001146706.1:c.3422G>C	NP_001140178.1:p.Gly1141Ala
NM_004653.4:c.3593G>C	NP_004644.2:p.Gly1198Ala
XM_005262560.1:c.3458G>C	XP_005262617.1:p.Gly1153Ala
XM_005262561.1:c.3362G>C	XP_005262618.1:p.Gly1121Ala
XM_011531468.1:c.3515G>C	XP_011529770.1:p.Gly1172Ala
XR_244571.2:n.3881G>C
XR_430568.2:n.4215G>C
XM_005262560.3:c.3458G>C	XP_005262617.1:p.Gly1153Ala
XM_005262561.3:c.3362G>C	XP_005262618.1:p.Gly1121Ala
XM_011531468.3:c.3515G>C	XP_011529770.1:p.Gly1172Ala
XM_024452495.1:c.1583G>C	XP_024308263.1:p.Gly528Ala
XM_024452496.1:c.1349G>C	XP_024308264.1:p.Gly450Ala
XR_001756009.2:n.4331G>C
XR_001756010.2:n.4331G>C
XR_001756011.2:n.4196G>C
XR_001756012.2:n.4344G>C
XR_001756013.2:n.3662G>C
XR_002958832.1:n.3763G>C
XR_002958834.1:n.3987G>C
XR_002958835.1:n.3870G>C
XR_002958836.1:n.4553G>C
XR_002958837.1:n.4360G>C
XR_244571.4:n.3880G>C
XR_430568.4:n.4214G>C
NM_001146706.2:c.3422G>C	NP_001140178.1:p.Gly1141Ala
NM_004653.5:c.3593G>C MANE Select	NP_004644.2:p.Gly1198Ala
NM_001146705.2:c.3686G>C	NP_001140177.1:p.Gly1229Ala