Canonical Allele Identifier: CA414840308

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868031T>G (hg19) ; chrY:g.19706145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706145T>G , CM000686.2:g.19706145T>G	GRCh38
NC_000024.9:g.21868031T>G , CM000686.1:g.21868031T>G	GRCh37
NC_000024.8:g.20327419T>G	NCBI36
NG_032920.1:g.43795A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4470A>C MANE Select	ENSP00000322408.4:p.Glu1490Asp
ENST00000317961.8:c.4470A>C	ENSP00000322408.4:p.Glu1490Asp
ENST00000382806.6:c.4299A>C	ENSP00000372256.2:p.Glu1433Asp
ENST00000440077.5:c.4347A>C	ENSP00000398543.1:p.Glu1449Asp
ENST00000469599.6:n.3221A>C
ENST00000492117.1:n.4515A>C
ENST00000541639.5:c.4563A>C	ENSP00000444293.1:p.Glu1521Asp
NM_001146705.1:c.4563A>C	NP_001140177.1:p.Glu1521Asp
NM_001146706.1:c.4299A>C	NP_001140178.1:p.Glu1433Asp
NM_004653.4:c.4470A>C	NP_004644.2:p.Glu1490Asp
XM_005262560.1:c.4335A>C	XP_005262617.1:p.Glu1445Asp
XM_005262561.1:c.4239A>C	XP_005262618.1:p.Glu1413Asp
XM_011531468.1:c.4392A>C	XP_011529770.1:p.Glu1464Asp
XR_430568.2:n.5245A>C
XM_005262560.3:c.4335A>C	XP_005262617.1:p.Glu1445Asp
XM_005262561.3:c.4239A>C	XP_005262618.1:p.Glu1413Asp
XM_011531468.3:c.4392A>C	XP_011529770.1:p.Glu1464Asp
XM_024452495.1:c.2460A>C	XP_024308263.1:p.Glu820Asp
XM_024452496.1:c.2226A>C	XP_024308264.1:p.Glu742Asp
XR_001756009.2:n.5208A>C
XR_001756010.2:n.5176A>C
XR_001756011.2:n.5073A>C
XR_001756012.2:n.5221A>C
XR_001756013.2:n.4539A>C
XR_002958832.1:n.4793A>C
XR_002958834.1:n.4864A>C
XR_002958835.1:n.4747A>C
XR_002958836.1:n.5398A>C
XR_002958837.1:n.5205A>C
XR_244571.4:n.4725A>C
XR_430568.4:n.5244A>C
NM_001146706.2:c.4299A>C	NP_001140178.1:p.Glu1433Asp
NM_004653.5:c.4470A>C MANE Select	NP_004644.2:p.Glu1490Asp
NM_001146705.2:c.4563A>C	NP_001140177.1:p.Glu1521Asp