Canonical Allele Identifier: CA414843119

Gene: KDM5D

Linked Data

• COSMIC: COSM6205529
• MyVariant Identifiers: chrY:g.21869317G>A (hg19) ; chrY:g.19707431G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707431G>A , CM000686.2:g.19707431G>A	GRCh38
NC_000024.9:g.21869317G>A , CM000686.1:g.21869317G>A	GRCh37
NC_000024.8:g.20328705G>A	NCBI36
NG_032920.1:g.42509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3715C>T MANE Select	ENSP00000322408.4:p.Arg1239Trp
ENST00000317961.8:c.3715C>T	ENSP00000322408.4:p.Arg1239Trp
ENST00000382806.6:c.3544C>T	ENSP00000372256.2:p.Arg1182Trp
ENST00000415360.1:c.631C>T	ENSP00000389433.1:p.Arg211Trp
ENST00000440077.5:c.3592C>T	ENSP00000398543.1:p.Arg1198Trp
ENST00000469599.6:n.2313C>T
ENST00000492117.1:n.3607C>T
ENST00000541639.5:c.3808C>T	ENSP00000444293.1:p.Arg1270Trp
NM_001146705.1:c.3808C>T	NP_001140177.1:p.Arg1270Trp
NM_001146706.1:c.3544C>T	NP_001140178.1:p.Arg1182Trp
NM_004653.4:c.3715C>T	NP_004644.2:p.Arg1239Trp
XM_005262560.1:c.3580C>T	XP_005262617.1:p.Arg1194Trp
XM_005262561.1:c.3484C>T	XP_005262618.1:p.Arg1162Trp
XM_011531468.1:c.3637C>T	XP_011529770.1:p.Arg1213Trp
XR_244571.2:n.4003C>T
XR_430568.2:n.4337C>T
XM_005262560.3:c.3580C>T	XP_005262617.1:p.Arg1194Trp
XM_005262561.3:c.3484C>T	XP_005262618.1:p.Arg1162Trp
XM_011531468.3:c.3637C>T	XP_011529770.1:p.Arg1213Trp
XM_024452495.1:c.1705C>T	XP_024308263.1:p.Arg569Trp
XM_024452496.1:c.1471C>T	XP_024308264.1:p.Arg491Trp
XR_001756009.2:n.4453C>T
XR_001756010.2:n.4453C>T
XR_001756011.2:n.4318C>T
XR_001756012.2:n.4466C>T
XR_001756013.2:n.3784C>T
XR_002958832.1:n.3885C>T
XR_002958834.1:n.4109C>T
XR_002958835.1:n.3992C>T
XR_002958836.1:n.4675C>T
XR_002958837.1:n.4482C>T
XR_244571.4:n.4002C>T
XR_430568.4:n.4336C>T
NM_001146706.2:c.3544C>T	NP_001140178.1:p.Arg1182Trp
NM_004653.5:c.3715C>T MANE Select	NP_004644.2:p.Arg1239Trp
NM_001146705.2:c.3808C>T	NP_001140177.1:p.Arg1270Trp