Canonical Allele Identifier: CA414843273

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869362C>G (hg19) ; chrY:g.19707476C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707476C>G , CM000686.2:g.19707476C>G	GRCh38
NC_000024.9:g.21869362C>G , CM000686.1:g.21869362C>G	GRCh37
NC_000024.8:g.20328750C>G	NCBI36
NG_032920.1:g.42464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3670G>C MANE Select	ENSP00000322408.4:p.Glu1224Gln
ENST00000317961.8:c.3670G>C	ENSP00000322408.4:p.Glu1224Gln
ENST00000382806.6:c.3499G>C	ENSP00000372256.2:p.Glu1167Gln
ENST00000415360.1:c.586G>C	ENSP00000389433.1:p.Glu196Gln
ENST00000440077.5:c.3547G>C	ENSP00000398543.1:p.Glu1183Gln
ENST00000469599.6:n.2268G>C
ENST00000492117.1:n.3562G>C
ENST00000541639.5:c.3763G>C	ENSP00000444293.1:p.Glu1255Gln
NM_001146705.1:c.3763G>C	NP_001140177.1:p.Glu1255Gln
NM_001146706.1:c.3499G>C	NP_001140178.1:p.Glu1167Gln
NM_004653.4:c.3670G>C	NP_004644.2:p.Glu1224Gln
XM_005262560.1:c.3535G>C	XP_005262617.1:p.Glu1179Gln
XM_005262561.1:c.3439G>C	XP_005262618.1:p.Glu1147Gln
XM_011531468.1:c.3592G>C	XP_011529770.1:p.Glu1198Gln
XR_244571.2:n.3958G>C
XR_430568.2:n.4292G>C
XM_005262560.3:c.3535G>C	XP_005262617.1:p.Glu1179Gln
XM_005262561.3:c.3439G>C	XP_005262618.1:p.Glu1147Gln
XM_011531468.3:c.3592G>C	XP_011529770.1:p.Glu1198Gln
XM_024452495.1:c.1660G>C	XP_024308263.1:p.Glu554Gln
XM_024452496.1:c.1426G>C	XP_024308264.1:p.Glu476Gln
XR_001756009.2:n.4408G>C
XR_001756010.2:n.4408G>C
XR_001756011.2:n.4273G>C
XR_001756012.2:n.4421G>C
XR_001756013.2:n.3739G>C
XR_002958832.1:n.3840G>C
XR_002958834.1:n.4064G>C
XR_002958835.1:n.3947G>C
XR_002958836.1:n.4630G>C
XR_002958837.1:n.4437G>C
XR_244571.4:n.3957G>C
XR_430568.4:n.4291G>C
NM_001146706.2:c.3499G>C	NP_001140178.1:p.Glu1167Gln
NM_004653.5:c.3670G>C MANE Select	NP_004644.2:p.Glu1224Gln
NM_001146705.2:c.3763G>C	NP_001140177.1:p.Glu1255Gln