Canonical Allele Identifier: CA414843796

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3530G>C MANE Select	ENSP00000322408.4:p.Cys1177Ser
ENST00000317961.8:c.3530G>C	ENSP00000322408.4:p.Cys1177Ser
ENST00000382806.6:c.3359G>C	ENSP00000372256.2:p.Cys1120Ser
ENST00000415360.1:c.446G>C	ENSP00000389433.1:p.Cys149Ser
ENST00000440077.5:c.3407G>C	ENSP00000398543.1:p.Cys1136Ser
ENST00000469599.6:n.2128G>C
ENST00000492117.1:n.3422G>C
ENST00000541639.5:c.3623G>C	ENSP00000444293.1:p.Cys1208Ser
NM_001146705.1:c.3623G>C	NP_001140177.1:p.Cys1208Ser
NM_001146706.1:c.3359G>C	NP_001140178.1:p.Cys1120Ser
NM_004653.4:c.3530G>C	NP_004644.2:p.Cys1177Ser
XM_005262560.1:c.3395G>C	XP_005262617.1:p.Cys1132Ser
XM_005262561.1:c.3299G>C	XP_005262618.1:p.Cys1100Ser
XM_011531468.1:c.3452G>C	XP_011529770.1:p.Cys1151Ser
XR_244571.2:n.3818G>C
XR_430568.2:n.4152G>C
XM_005262560.3:c.3395G>C	XP_005262617.1:p.Cys1132Ser
XM_005262561.3:c.3299G>C	XP_005262618.1:p.Cys1100Ser
XM_011531468.3:c.3452G>C	XP_011529770.1:p.Cys1151Ser
XM_024452495.1:c.1520G>C	XP_024308263.1:p.Cys507Ser
XM_024452496.1:c.1286G>C	XP_024308264.1:p.Cys429Ser
XR_001756009.2:n.4268G>C
XR_001756010.2:n.4268G>C
XR_001756011.2:n.4133G>C
XR_001756012.2:n.4281G>C
XR_001756013.2:n.3599G>C
XR_002958832.1:n.3700G>C
XR_002958834.1:n.3924G>C
XR_002958835.1:n.3807G>C
XR_002958836.1:n.4490G>C
XR_002958837.1:n.4297G>C
XR_244571.4:n.3817G>C
XR_430568.4:n.4151G>C
NM_001146706.2:c.3359G>C	NP_001140178.1:p.Cys1120Ser
NM_004653.5:c.3530G>C MANE Select	NP_004644.2:p.Cys1177Ser
NM_001146705.2:c.3623G>C	NP_001140177.1:p.Cys1208Ser