Canonical Allele Identifier: CA414840050

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867966T>G (hg19) ; chrY:g.19706080T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706080T>G , CM000686.2:g.19706080T>G	GRCh38
NC_000024.9:g.21867966T>G , CM000686.1:g.21867966T>G	GRCh37
NC_000024.8:g.20327354T>G	NCBI36
NG_032920.1:g.43860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4535A>C MANE Select	ENSP00000322408.4:p.Gln1512Pro
ENST00000317961.8:c.4535A>C	ENSP00000322408.4:p.Gln1512Pro
ENST00000382806.6:c.4364A>C	ENSP00000372256.2:p.Gln1455Pro
ENST00000440077.5:c.4412A>C	ENSP00000398543.1:p.Gln1471Pro
ENST00000469599.6:n.3286A>C
ENST00000492117.1:n.4580A>C
ENST00000541639.5:c.4628A>C	ENSP00000444293.1:p.Gln1543Pro
NM_001146705.1:c.4628A>C	NP_001140177.1:p.Gln1543Pro
NM_001146706.1:c.4364A>C	NP_001140178.1:p.Gln1455Pro
NM_004653.4:c.4535A>C	NP_004644.2:p.Gln1512Pro
XM_005262560.1:c.4400A>C	XP_005262617.1:p.Gln1467Pro
XM_005262561.1:c.4304A>C	XP_005262618.1:p.Gln1435Pro
XM_011531468.1:c.4457A>C	XP_011529770.1:p.Gln1486Pro
XR_430568.2:n.5310A>C
XM_005262560.3:c.4400A>C	XP_005262617.1:p.Gln1467Pro
XM_005262561.3:c.4304A>C	XP_005262618.1:p.Gln1435Pro
XM_011531468.3:c.4457A>C	XP_011529770.1:p.Gln1486Pro
XM_024452495.1:c.2525A>C	XP_024308263.1:p.Gln842Pro
XM_024452496.1:c.2291A>C	XP_024308264.1:p.Gln764Pro
XR_001756009.2:n.5273A>C
XR_001756010.2:n.5241A>C
XR_001756011.2:n.5138A>C
XR_001756012.2:n.5286A>C
XR_001756013.2:n.4604A>C
XR_002958832.1:n.4858A>C
XR_002958834.1:n.4929A>C
XR_002958835.1:n.4812A>C
XR_002958836.1:n.5463A>C
XR_002958837.1:n.5270A>C
XR_244571.4:n.4790A>C
XR_430568.4:n.5309A>C
NM_001146706.2:c.4364A>C	NP_001140178.1:p.Gln1455Pro
NM_004653.5:c.4535A>C MANE Select	NP_004644.2:p.Gln1512Pro
NM_001146705.2:c.4628A>C	NP_001140177.1:p.Gln1543Pro