Canonical Allele Identifier: CA414843607

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869454T>C (hg19) ; chrY:g.19707568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707568T>C , CM000686.2:g.19707568T>C	GRCh38
NC_000024.9:g.21869454T>C , CM000686.1:g.21869454T>C	GRCh37
NC_000024.8:g.20328842T>C	NCBI36
NG_032920.1:g.42372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3578A>G MANE Select	ENSP00000322408.4:p.Gln1193Arg
ENST00000317961.8:c.3578A>G	ENSP00000322408.4:p.Gln1193Arg
ENST00000382806.6:c.3407A>G	ENSP00000372256.2:p.Gln1136Arg
ENST00000415360.1:c.494A>G	ENSP00000389433.1:p.Gln165Arg
ENST00000440077.5:c.3455A>G	ENSP00000398543.1:p.Gln1152Arg
ENST00000469599.6:n.2176A>G
ENST00000492117.1:n.3470A>G
ENST00000541639.5:c.3671A>G	ENSP00000444293.1:p.Gln1224Arg
NM_001146705.1:c.3671A>G	NP_001140177.1:p.Gln1224Arg
NM_001146706.1:c.3407A>G	NP_001140178.1:p.Gln1136Arg
NM_004653.4:c.3578A>G	NP_004644.2:p.Gln1193Arg
XM_005262560.1:c.3443A>G	XP_005262617.1:p.Gln1148Arg
XM_005262561.1:c.3347A>G	XP_005262618.1:p.Gln1116Arg
XM_011531468.1:c.3500A>G	XP_011529770.1:p.Gln1167Arg
XR_244571.2:n.3866A>G
XR_430568.2:n.4200A>G
XM_005262560.3:c.3443A>G	XP_005262617.1:p.Gln1148Arg
XM_005262561.3:c.3347A>G	XP_005262618.1:p.Gln1116Arg
XM_011531468.3:c.3500A>G	XP_011529770.1:p.Gln1167Arg
XM_024452495.1:c.1568A>G	XP_024308263.1:p.Gln523Arg
XM_024452496.1:c.1334A>G	XP_024308264.1:p.Gln445Arg
XR_001756009.2:n.4316A>G
XR_001756010.2:n.4316A>G
XR_001756011.2:n.4181A>G
XR_001756012.2:n.4329A>G
XR_001756013.2:n.3647A>G
XR_002958832.1:n.3748A>G
XR_002958834.1:n.3972A>G
XR_002958835.1:n.3855A>G
XR_002958836.1:n.4538A>G
XR_002958837.1:n.4345A>G
XR_244571.4:n.3865A>G
XR_430568.4:n.4199A>G
NM_001146706.2:c.3407A>G	NP_001140178.1:p.Gln1136Arg
NM_004653.5:c.3578A>G MANE Select	NP_004644.2:p.Gln1193Arg
NM_001146705.2:c.3671A>G	NP_001140177.1:p.Gln1224Arg