Canonical Allele Identifier: CA414843783

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869499C>G (hg19) ; chrY:g.19707613C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707613C>G , CM000686.2:g.19707613C>G	GRCh38
NC_000024.9:g.21869499C>G , CM000686.1:g.21869499C>G	GRCh37
NC_000024.8:g.20328887C>G	NCBI36
NG_032920.1:g.42327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3533G>C MANE Select	ENSP00000322408.4:p.Gly1178Ala
ENST00000317961.8:c.3533G>C	ENSP00000322408.4:p.Gly1178Ala
ENST00000382806.6:c.3362G>C	ENSP00000372256.2:p.Gly1121Ala
ENST00000415360.1:c.449G>C	ENSP00000389433.1:p.Gly150Ala
ENST00000440077.5:c.3410G>C	ENSP00000398543.1:p.Gly1137Ala
ENST00000469599.6:n.2131G>C
ENST00000492117.1:n.3425G>C
ENST00000541639.5:c.3626G>C	ENSP00000444293.1:p.Gly1209Ala
NM_001146705.1:c.3626G>C	NP_001140177.1:p.Gly1209Ala
NM_001146706.1:c.3362G>C	NP_001140178.1:p.Gly1121Ala
NM_004653.4:c.3533G>C	NP_004644.2:p.Gly1178Ala
XM_005262560.1:c.3398G>C	XP_005262617.1:p.Gly1133Ala
XM_005262561.1:c.3302G>C	XP_005262618.1:p.Gly1101Ala
XM_011531468.1:c.3455G>C	XP_011529770.1:p.Gly1152Ala
XR_244571.2:n.3821G>C
XR_430568.2:n.4155G>C
XM_005262560.3:c.3398G>C	XP_005262617.1:p.Gly1133Ala
XM_005262561.3:c.3302G>C	XP_005262618.1:p.Gly1101Ala
XM_011531468.3:c.3455G>C	XP_011529770.1:p.Gly1152Ala
XM_024452495.1:c.1523G>C	XP_024308263.1:p.Gly508Ala
XM_024452496.1:c.1289G>C	XP_024308264.1:p.Gly430Ala
XR_001756009.2:n.4271G>C
XR_001756010.2:n.4271G>C
XR_001756011.2:n.4136G>C
XR_001756012.2:n.4284G>C
XR_001756013.2:n.3602G>C
XR_002958832.1:n.3703G>C
XR_002958834.1:n.3927G>C
XR_002958835.1:n.3810G>C
XR_002958836.1:n.4493G>C
XR_002958837.1:n.4300G>C
XR_244571.4:n.3820G>C
XR_430568.4:n.4154G>C
NM_001146706.2:c.3362G>C	NP_001140178.1:p.Gly1121Ala
NM_004653.5:c.3533G>C MANE Select	NP_004644.2:p.Gly1178Ala
NM_001146705.2:c.3626G>C	NP_001140177.1:p.Gly1209Ala