Canonical Allele Identifier: CA414843798

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869502C>A (hg19) ; chrY:g.19707616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707616C>A , CM000686.2:g.19707616C>A	GRCh38
NC_000024.9:g.21869502C>A , CM000686.1:g.21869502C>A	GRCh37
NC_000024.8:g.20328890C>A	NCBI36
NG_032920.1:g.42324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3530G>T MANE Select	ENSP00000322408.4:p.Cys1177Phe
ENST00000317961.8:c.3530G>T	ENSP00000322408.4:p.Cys1177Phe
ENST00000382806.6:c.3359G>T	ENSP00000372256.2:p.Cys1120Phe
ENST00000415360.1:c.446G>T	ENSP00000389433.1:p.Cys149Phe
ENST00000440077.5:c.3407G>T	ENSP00000398543.1:p.Cys1136Phe
ENST00000469599.6:n.2128G>T
ENST00000492117.1:n.3422G>T
ENST00000541639.5:c.3623G>T	ENSP00000444293.1:p.Cys1208Phe
NM_001146705.1:c.3623G>T	NP_001140177.1:p.Cys1208Phe
NM_001146706.1:c.3359G>T	NP_001140178.1:p.Cys1120Phe
NM_004653.4:c.3530G>T	NP_004644.2:p.Cys1177Phe
XM_005262560.1:c.3395G>T	XP_005262617.1:p.Cys1132Phe
XM_005262561.1:c.3299G>T	XP_005262618.1:p.Cys1100Phe
XM_011531468.1:c.3452G>T	XP_011529770.1:p.Cys1151Phe
XR_244571.2:n.3818G>T
XR_430568.2:n.4152G>T
XM_005262560.3:c.3395G>T	XP_005262617.1:p.Cys1132Phe
XM_005262561.3:c.3299G>T	XP_005262618.1:p.Cys1100Phe
XM_011531468.3:c.3452G>T	XP_011529770.1:p.Cys1151Phe
XM_024452495.1:c.1520G>T	XP_024308263.1:p.Cys507Phe
XM_024452496.1:c.1286G>T	XP_024308264.1:p.Cys429Phe
XR_001756009.2:n.4268G>T
XR_001756010.2:n.4268G>T
XR_001756011.2:n.4133G>T
XR_001756012.2:n.4281G>T
XR_001756013.2:n.3599G>T
XR_002958832.1:n.3700G>T
XR_002958834.1:n.3924G>T
XR_002958835.1:n.3807G>T
XR_002958836.1:n.4490G>T
XR_002958837.1:n.4297G>T
XR_244571.4:n.3817G>T
XR_430568.4:n.4151G>T
NM_001146706.2:c.3359G>T	NP_001140178.1:p.Cys1120Phe
NM_004653.5:c.3530G>T MANE Select	NP_004644.2:p.Cys1177Phe
NM_001146705.2:c.3623G>T	NP_001140177.1:p.Cys1208Phe