Canonical Allele Identifier: CA414840319

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868035C>G (hg19) ; chrY:g.19706149C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706149C>G , CM000686.2:g.19706149C>G	GRCh38
NC_000024.9:g.21868035C>G , CM000686.1:g.21868035C>G	GRCh37
NC_000024.8:g.20327423C>G	NCBI36
NG_032920.1:g.43791G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4466G>C MANE Select	ENSP00000322408.4:p.Arg1489Pro
ENST00000317961.8:c.4466G>C	ENSP00000322408.4:p.Arg1489Pro
ENST00000382806.6:c.4295G>C	ENSP00000372256.2:p.Arg1432Pro
ENST00000440077.5:c.4343G>C	ENSP00000398543.1:p.Arg1448Pro
ENST00000469599.6:n.3217G>C
ENST00000492117.1:n.4511G>C
ENST00000541639.5:c.4559G>C	ENSP00000444293.1:p.Arg1520Pro
NM_001146705.1:c.4559G>C	NP_001140177.1:p.Arg1520Pro
NM_001146706.1:c.4295G>C	NP_001140178.1:p.Arg1432Pro
NM_004653.4:c.4466G>C	NP_004644.2:p.Arg1489Pro
XM_005262560.1:c.4331G>C	XP_005262617.1:p.Arg1444Pro
XM_005262561.1:c.4235G>C	XP_005262618.1:p.Arg1412Pro
XM_011531468.1:c.4388G>C	XP_011529770.1:p.Arg1463Pro
XR_430568.2:n.5241G>C
XM_005262560.3:c.4331G>C	XP_005262617.1:p.Arg1444Pro
XM_005262561.3:c.4235G>C	XP_005262618.1:p.Arg1412Pro
XM_011531468.3:c.4388G>C	XP_011529770.1:p.Arg1463Pro
XM_024452495.1:c.2456G>C	XP_024308263.1:p.Arg819Pro
XM_024452496.1:c.2222G>C	XP_024308264.1:p.Arg741Pro
XR_001756009.2:n.5204G>C
XR_001756010.2:n.5172G>C
XR_001756011.2:n.5069G>C
XR_001756012.2:n.5217G>C
XR_001756013.2:n.4535G>C
XR_002958832.1:n.4789G>C
XR_002958834.1:n.4860G>C
XR_002958835.1:n.4743G>C
XR_002958836.1:n.5394G>C
XR_002958837.1:n.5201G>C
XR_244571.4:n.4721G>C
XR_430568.4:n.5240G>C
NM_001146706.2:c.4295G>C	NP_001140178.1:p.Arg1432Pro
NM_004653.5:c.4466G>C MANE Select	NP_004644.2:p.Arg1489Pro
NM_001146705.2:c.4559G>C	NP_001140177.1:p.Arg1520Pro