Canonical Allele Identifier: CA414841914

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4051G>T MANE Select	ENSP00000322408.4:p.Ala1351Ser
ENST00000317961.8:c.4051G>T	ENSP00000322408.4:p.Ala1351Ser
ENST00000382806.6:c.3880G>T	ENSP00000372256.2:p.Ala1294Ser
ENST00000440077.5:c.3928G>T	ENSP00000398543.1:p.Ala1310Ser
ENST00000469599.6:n.2649G>T
ENST00000492117.1:n.3943G>T
ENST00000541639.5:c.4144G>T	ENSP00000444293.1:p.Ala1382Ser
NM_001146705.1:c.4144G>T	NP_001140177.1:p.Ala1382Ser
NM_001146706.1:c.3880G>T	NP_001140178.1:p.Ala1294Ser
NM_004653.4:c.4051G>T	NP_004644.2:p.Ala1351Ser
XM_005262560.1:c.3916G>T	XP_005262617.1:p.Ala1306Ser
XM_005262561.1:c.3820G>T	XP_005262618.1:p.Ala1274Ser
XM_011531468.1:c.3973G>T	XP_011529770.1:p.Ala1325Ser
XR_244571.2:n.4339G>T
XR_430568.2:n.4673G>T
XM_005262560.3:c.3916G>T	XP_005262617.1:p.Ala1306Ser
XM_005262561.3:c.3820G>T	XP_005262618.1:p.Ala1274Ser
XM_011531468.3:c.3973G>T	XP_011529770.1:p.Ala1325Ser
XM_024452495.1:c.2041G>T	XP_024308263.1:p.Ala681Ser
XM_024452496.1:c.1807G>T	XP_024308264.1:p.Ala603Ser
XR_001756009.2:n.4789G>T
XR_001756010.2:n.4789G>T
XR_001756011.2:n.4654G>T
XR_001756012.2:n.4802G>T
XR_001756013.2:n.4120G>T
XR_002958832.1:n.4221G>T
XR_002958834.1:n.4445G>T
XR_002958835.1:n.4328G>T
XR_002958836.1:n.5011G>T
XR_002958837.1:n.4818G>T
XR_244571.4:n.4338G>T
XR_430568.4:n.4672G>T
NM_001146706.2:c.3880G>T	NP_001140178.1:p.Ala1294Ser
NM_004653.5:c.4051G>T MANE Select	NP_004644.2:p.Ala1351Ser
NM_001146705.2:c.4144G>T	NP_001140177.1:p.Ala1382Ser