Canonical Allele Identifier: CA414840418

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868058T>G (hg19) ; chrY:g.19706172T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706172T>G , CM000686.2:g.19706172T>G	GRCh38
NC_000024.9:g.21868058T>G , CM000686.1:g.21868058T>G	GRCh37
NC_000024.8:g.20327446T>G	NCBI36
NG_032920.1:g.43768A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4443A>C MANE Select	ENSP00000322408.4:p.Glu1481Asp
ENST00000317961.8:c.4443A>C	ENSP00000322408.4:p.Glu1481Asp
ENST00000382806.6:c.4272A>C	ENSP00000372256.2:p.Glu1424Asp
ENST00000440077.5:c.4320A>C	ENSP00000398543.1:p.Glu1440Asp
ENST00000469599.6:n.3194A>C
ENST00000492117.1:n.4488A>C
ENST00000541639.5:c.4536A>C	ENSP00000444293.1:p.Glu1512Asp
NM_001146705.1:c.4536A>C	NP_001140177.1:p.Glu1512Asp
NM_001146706.1:c.4272A>C	NP_001140178.1:p.Glu1424Asp
NM_004653.4:c.4443A>C	NP_004644.2:p.Glu1481Asp
XM_005262560.1:c.4308A>C	XP_005262617.1:p.Glu1436Asp
XM_005262561.1:c.4212A>C	XP_005262618.1:p.Glu1404Asp
XM_011531468.1:c.4365A>C	XP_011529770.1:p.Glu1455Asp
XR_430568.2:n.5218A>C
XM_005262560.3:c.4308A>C	XP_005262617.1:p.Glu1436Asp
XM_005262561.3:c.4212A>C	XP_005262618.1:p.Glu1404Asp
XM_011531468.3:c.4365A>C	XP_011529770.1:p.Glu1455Asp
XM_024452495.1:c.2433A>C	XP_024308263.1:p.Glu811Asp
XM_024452496.1:c.2199A>C	XP_024308264.1:p.Glu733Asp
XR_001756009.2:n.5181A>C
XR_001756010.2:n.5149A>C
XR_001756011.2:n.5046A>C
XR_001756012.2:n.5194A>C
XR_001756013.2:n.4512A>C
XR_002958832.1:n.4766A>C
XR_002958834.1:n.4837A>C
XR_002958835.1:n.4720A>C
XR_002958836.1:n.5371A>C
XR_002958837.1:n.5178A>C
XR_244571.4:n.4698A>C
XR_430568.4:n.5217A>C
NM_001146706.2:c.4272A>C	NP_001140178.1:p.Glu1424Asp
NM_004653.5:c.4443A>C MANE Select	NP_004644.2:p.Glu1481Asp
NM_001146705.2:c.4536A>C	NP_001140177.1:p.Glu1512Asp