Canonical Allele Identifier: CA414844312

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869842T>G (hg19) ; chrY:g.19707956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707956T>G , CM000686.2:g.19707956T>G	GRCh38
NC_000024.9:g.21869842T>G , CM000686.1:g.21869842T>G	GRCh37
NC_000024.8:g.20329230T>G	NCBI36
NG_032920.1:g.41984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3377A>C MANE Select	ENSP00000322408.4:p.Asp1126Ala
ENST00000317961.8:c.3377A>C	ENSP00000322408.4:p.Asp1126Ala
ENST00000382806.6:c.3206A>C	ENSP00000372256.2:p.Asp1069Ala
ENST00000415360.1:c.293A>C	ENSP00000389433.1:p.Asp98Ala
ENST00000440077.5:c.3254A>C	ENSP00000398543.1:p.Asp1085Ala
ENST00000469599.6:n.1975A>C
ENST00000492117.1:n.3269A>C
ENST00000541639.5:c.3470A>C	ENSP00000444293.1:p.Asp1157Ala
NM_001146705.1:c.3470A>C	NP_001140177.1:p.Asp1157Ala
NM_001146706.1:c.3206A>C	NP_001140178.1:p.Asp1069Ala
NM_004653.4:c.3377A>C	NP_004644.2:p.Asp1126Ala
XM_005262560.1:c.3242A>C	XP_005262617.1:p.Asp1081Ala
XM_005262561.1:c.3146A>C	XP_005262618.1:p.Asp1049Ala
XM_011531468.1:c.3299A>C	XP_011529770.1:p.Asp1100Ala
XR_244571.2:n.3665A>C
XR_430568.2:n.3999A>C
XM_005262560.3:c.3242A>C	XP_005262617.1:p.Asp1081Ala
XM_005262561.3:c.3146A>C	XP_005262618.1:p.Asp1049Ala
XM_011531468.3:c.3299A>C	XP_011529770.1:p.Asp1100Ala
XM_024452495.1:c.1367A>C	XP_024308263.1:p.Asp456Ala
XM_024452496.1:c.1133A>C	XP_024308264.1:p.Asp378Ala
XR_001756009.2:n.4115A>C
XR_001756010.2:n.4115A>C
XR_001756011.2:n.3980A>C
XR_001756012.2:n.4128A>C
XR_001756013.2:n.3446A>C
XR_002958832.1:n.3547A>C
XR_002958834.1:n.3771A>C
XR_002958835.1:n.3654A>C
XR_002958836.1:n.4337A>C
XR_002958837.1:n.4144A>C
XR_244571.4:n.3664A>C
XR_430568.4:n.3998A>C
NM_001146706.2:c.3206A>C	NP_001140178.1:p.Asp1069Ala
NM_004653.5:c.3377A>C MANE Select	NP_004644.2:p.Asp1126Ala
NM_001146705.2:c.3470A>C	NP_001140177.1:p.Asp1157Ala