Canonical Allele Identifier: CA414841915

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868698C>G (hg19) ; chrY:g.19706812C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706812C>G , CM000686.2:g.19706812C>G	GRCh38
NC_000024.9:g.21868698C>G , CM000686.1:g.21868698C>G	GRCh37
NC_000024.8:g.20328086C>G	NCBI36
NG_032920.1:g.43128G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4051G>C MANE Select	ENSP00000322408.4:p.Ala1351Pro
ENST00000317961.8:c.4051G>C	ENSP00000322408.4:p.Ala1351Pro
ENST00000382806.6:c.3880G>C	ENSP00000372256.2:p.Ala1294Pro
ENST00000440077.5:c.3928G>C	ENSP00000398543.1:p.Ala1310Pro
ENST00000469599.6:n.2649G>C
ENST00000492117.1:n.3943G>C
ENST00000541639.5:c.4144G>C	ENSP00000444293.1:p.Ala1382Pro
NM_001146705.1:c.4144G>C	NP_001140177.1:p.Ala1382Pro
NM_001146706.1:c.3880G>C	NP_001140178.1:p.Ala1294Pro
NM_004653.4:c.4051G>C	NP_004644.2:p.Ala1351Pro
XM_005262560.1:c.3916G>C	XP_005262617.1:p.Ala1306Pro
XM_005262561.1:c.3820G>C	XP_005262618.1:p.Ala1274Pro
XM_011531468.1:c.3973G>C	XP_011529770.1:p.Ala1325Pro
XR_244571.2:n.4339G>C
XR_430568.2:n.4673G>C
XM_005262560.3:c.3916G>C	XP_005262617.1:p.Ala1306Pro
XM_005262561.3:c.3820G>C	XP_005262618.1:p.Ala1274Pro
XM_011531468.3:c.3973G>C	XP_011529770.1:p.Ala1325Pro
XM_024452495.1:c.2041G>C	XP_024308263.1:p.Ala681Pro
XM_024452496.1:c.1807G>C	XP_024308264.1:p.Ala603Pro
XR_001756009.2:n.4789G>C
XR_001756010.2:n.4789G>C
XR_001756011.2:n.4654G>C
XR_001756012.2:n.4802G>C
XR_001756013.2:n.4120G>C
XR_002958832.1:n.4221G>C
XR_002958834.1:n.4445G>C
XR_002958835.1:n.4328G>C
XR_002958836.1:n.5011G>C
XR_002958837.1:n.4818G>C
XR_244571.4:n.4338G>C
XR_430568.4:n.4672G>C
NM_001146706.2:c.3880G>C	NP_001140178.1:p.Ala1294Pro
NM_004653.5:c.4051G>C MANE Select	NP_004644.2:p.Ala1351Pro
NM_001146705.2:c.4144G>C	NP_001140177.1:p.Ala1382Pro