Canonical Allele Identifier: CA414843524

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869435C>A (hg19) ; chrY:g.19707549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707549C>A , CM000686.2:g.19707549C>A	GRCh38
NC_000024.9:g.21869435C>A , CM000686.1:g.21869435C>A	GRCh37
NC_000024.8:g.20328823C>A	NCBI36
NG_032920.1:g.42391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3597G>T MANE Select	ENSP00000322408.4:p.Gln1199His
ENST00000317961.8:c.3597G>T	ENSP00000322408.4:p.Gln1199His
ENST00000382806.6:c.3426G>T	ENSP00000372256.2:p.Gln1142His
ENST00000415360.1:c.513G>T	ENSP00000389433.1:p.Gln171His
ENST00000440077.5:c.3474G>T	ENSP00000398543.1:p.Gln1158His
ENST00000469599.6:n.2195G>T
ENST00000492117.1:n.3489G>T
ENST00000541639.5:c.3690G>T	ENSP00000444293.1:p.Gln1230His
NM_001146705.1:c.3690G>T	NP_001140177.1:p.Gln1230His
NM_001146706.1:c.3426G>T	NP_001140178.1:p.Gln1142His
NM_004653.4:c.3597G>T	NP_004644.2:p.Gln1199His
XM_005262560.1:c.3462G>T	XP_005262617.1:p.Gln1154His
XM_005262561.1:c.3366G>T	XP_005262618.1:p.Gln1122His
XM_011531468.1:c.3519G>T	XP_011529770.1:p.Gln1173His
XR_244571.2:n.3885G>T
XR_430568.2:n.4219G>T
XM_005262560.3:c.3462G>T	XP_005262617.1:p.Gln1154His
XM_005262561.3:c.3366G>T	XP_005262618.1:p.Gln1122His
XM_011531468.3:c.3519G>T	XP_011529770.1:p.Gln1173His
XM_024452495.1:c.1587G>T	XP_024308263.1:p.Gln529His
XM_024452496.1:c.1353G>T	XP_024308264.1:p.Gln451His
XR_001756009.2:n.4335G>T
XR_001756010.2:n.4335G>T
XR_001756011.2:n.4200G>T
XR_001756012.2:n.4348G>T
XR_001756013.2:n.3666G>T
XR_002958832.1:n.3767G>T
XR_002958834.1:n.3991G>T
XR_002958835.1:n.3874G>T
XR_002958836.1:n.4557G>T
XR_002958837.1:n.4364G>T
XR_244571.4:n.3884G>T
XR_430568.4:n.4218G>T
NM_001146706.2:c.3426G>T	NP_001140178.1:p.Gln1142His
NM_004653.5:c.3597G>T MANE Select	NP_004644.2:p.Gln1199His
NM_001146705.2:c.3690G>T	NP_001140177.1:p.Gln1230His