Canonical Allele Identifier: CA414843272

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3670G>T MANE Select	ENSP00000322408.4:p.Glu1224Ter
ENST00000317961.8:c.3670G>T	ENSP00000322408.4:p.Glu1224Ter
ENST00000382806.6:c.3499G>T	ENSP00000372256.2:p.Glu1167Ter
ENST00000415360.1:c.586G>T	ENSP00000389433.1:p.Glu196Ter
ENST00000440077.5:c.3547G>T	ENSP00000398543.1:p.Glu1183Ter
ENST00000469599.6:n.2268G>T
ENST00000492117.1:n.3562G>T
ENST00000541639.5:c.3763G>T	ENSP00000444293.1:p.Glu1255Ter
NM_001146705.1:c.3763G>T	NP_001140177.1:p.Glu1255Ter
NM_001146706.1:c.3499G>T	NP_001140178.1:p.Glu1167Ter
NM_004653.4:c.3670G>T	NP_004644.2:p.Glu1224Ter
XM_005262560.1:c.3535G>T	XP_005262617.1:p.Glu1179Ter
XM_005262561.1:c.3439G>T	XP_005262618.1:p.Glu1147Ter
XM_011531468.1:c.3592G>T	XP_011529770.1:p.Glu1198Ter
XR_244571.2:n.3958G>T
XR_430568.2:n.4292G>T
XM_005262560.3:c.3535G>T	XP_005262617.1:p.Glu1179Ter
XM_005262561.3:c.3439G>T	XP_005262618.1:p.Glu1147Ter
XM_011531468.3:c.3592G>T	XP_011529770.1:p.Glu1198Ter
XM_024452495.1:c.1660G>T	XP_024308263.1:p.Glu554Ter
XM_024452496.1:c.1426G>T	XP_024308264.1:p.Glu476Ter
XR_001756009.2:n.4408G>T
XR_001756010.2:n.4408G>T
XR_001756011.2:n.4273G>T
XR_001756012.2:n.4421G>T
XR_001756013.2:n.3739G>T
XR_002958832.1:n.3840G>T
XR_002958834.1:n.4064G>T
XR_002958835.1:n.3947G>T
XR_002958836.1:n.4630G>T
XR_002958837.1:n.4437G>T
XR_244571.4:n.3957G>T
XR_430568.4:n.4291G>T
NM_001146706.2:c.3499G>T	NP_001140178.1:p.Glu1167Ter
NM_004653.5:c.3670G>T MANE Select	NP_004644.2:p.Glu1224Ter
NM_001146705.2:c.3763G>T	NP_001140177.1:p.Glu1255Ter