Canonical Allele Identifier: CA414840371

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868048C>G (hg19) ; chrY:g.19706162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706162C>G , CM000686.2:g.19706162C>G	GRCh38
NC_000024.9:g.21868048C>G , CM000686.1:g.21868048C>G	GRCh37
NC_000024.8:g.20327436C>G	NCBI36
NG_032920.1:g.43778G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4453G>C MANE Select	ENSP00000322408.4:p.Glu1485Gln
ENST00000317961.8:c.4453G>C	ENSP00000322408.4:p.Glu1485Gln
ENST00000382806.6:c.4282G>C	ENSP00000372256.2:p.Glu1428Gln
ENST00000440077.5:c.4330G>C	ENSP00000398543.1:p.Glu1444Gln
ENST00000469599.6:n.3204G>C
ENST00000492117.1:n.4498G>C
ENST00000541639.5:c.4546G>C	ENSP00000444293.1:p.Glu1516Gln
NM_001146705.1:c.4546G>C	NP_001140177.1:p.Glu1516Gln
NM_001146706.1:c.4282G>C	NP_001140178.1:p.Glu1428Gln
NM_004653.4:c.4453G>C	NP_004644.2:p.Glu1485Gln
XM_005262560.1:c.4318G>C	XP_005262617.1:p.Glu1440Gln
XM_005262561.1:c.4222G>C	XP_005262618.1:p.Glu1408Gln
XM_011531468.1:c.4375G>C	XP_011529770.1:p.Glu1459Gln
XR_430568.2:n.5228G>C
XM_005262560.3:c.4318G>C	XP_005262617.1:p.Glu1440Gln
XM_005262561.3:c.4222G>C	XP_005262618.1:p.Glu1408Gln
XM_011531468.3:c.4375G>C	XP_011529770.1:p.Glu1459Gln
XM_024452495.1:c.2443G>C	XP_024308263.1:p.Glu815Gln
XM_024452496.1:c.2209G>C	XP_024308264.1:p.Glu737Gln
XR_001756009.2:n.5191G>C
XR_001756010.2:n.5159G>C
XR_001756011.2:n.5056G>C
XR_001756012.2:n.5204G>C
XR_001756013.2:n.4522G>C
XR_002958832.1:n.4776G>C
XR_002958834.1:n.4847G>C
XR_002958835.1:n.4730G>C
XR_002958836.1:n.5381G>C
XR_002958837.1:n.5188G>C
XR_244571.4:n.4708G>C
XR_430568.4:n.5227G>C
NM_001146706.2:c.4282G>C	NP_001140178.1:p.Glu1428Gln
NM_004653.5:c.4453G>C MANE Select	NP_004644.2:p.Glu1485Gln
NM_001146705.2:c.4546G>C	NP_001140177.1:p.Glu1516Gln