Canonical Allele Identifier: CA414843271

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869361T>G (hg19) ; chrY:g.19707475T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707475T>G , CM000686.2:g.19707475T>G	GRCh38
NC_000024.9:g.21869361T>G , CM000686.1:g.21869361T>G	GRCh37
NC_000024.8:g.20328749T>G	NCBI36
NG_032920.1:g.42465A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3671A>C MANE Select	ENSP00000322408.4:p.Glu1224Ala
ENST00000317961.8:c.3671A>C	ENSP00000322408.4:p.Glu1224Ala
ENST00000382806.6:c.3500A>C	ENSP00000372256.2:p.Glu1167Ala
ENST00000415360.1:c.587A>C	ENSP00000389433.1:p.Glu196Ala
ENST00000440077.5:c.3548A>C	ENSP00000398543.1:p.Glu1183Ala
ENST00000469599.6:n.2269A>C
ENST00000492117.1:n.3563A>C
ENST00000541639.5:c.3764A>C	ENSP00000444293.1:p.Glu1255Ala
NM_001146705.1:c.3764A>C	NP_001140177.1:p.Glu1255Ala
NM_001146706.1:c.3500A>C	NP_001140178.1:p.Glu1167Ala
NM_004653.4:c.3671A>C	NP_004644.2:p.Glu1224Ala
XM_005262560.1:c.3536A>C	XP_005262617.1:p.Glu1179Ala
XM_005262561.1:c.3440A>C	XP_005262618.1:p.Glu1147Ala
XM_011531468.1:c.3593A>C	XP_011529770.1:p.Glu1198Ala
XR_244571.2:n.3959A>C
XR_430568.2:n.4293A>C
XM_005262560.3:c.3536A>C	XP_005262617.1:p.Glu1179Ala
XM_005262561.3:c.3440A>C	XP_005262618.1:p.Glu1147Ala
XM_011531468.3:c.3593A>C	XP_011529770.1:p.Glu1198Ala
XM_024452495.1:c.1661A>C	XP_024308263.1:p.Glu554Ala
XM_024452496.1:c.1427A>C	XP_024308264.1:p.Glu476Ala
XR_001756009.2:n.4409A>C
XR_001756010.2:n.4409A>C
XR_001756011.2:n.4274A>C
XR_001756012.2:n.4422A>C
XR_001756013.2:n.3740A>C
XR_002958832.1:n.3841A>C
XR_002958834.1:n.4065A>C
XR_002958835.1:n.3948A>C
XR_002958836.1:n.4631A>C
XR_002958837.1:n.4438A>C
XR_244571.4:n.3958A>C
XR_430568.4:n.4292A>C
NM_001146706.2:c.3500A>C	NP_001140178.1:p.Glu1167Ala
NM_004653.5:c.3671A>C MANE Select	NP_004644.2:p.Glu1224Ala
NM_001146705.2:c.3764A>C	NP_001140177.1:p.Glu1255Ala