Canonical Allele Identifier: CA414844253

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869827C>A (hg19) ; chrY:g.19707941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707941C>A , CM000686.2:g.19707941C>A	GRCh38
NC_000024.9:g.21869827C>A , CM000686.1:g.21869827C>A	GRCh37
NC_000024.8:g.20329215C>A	NCBI36
NG_032920.1:g.41999G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.3392G>T MANE Select	ENSP00000322408.4:p.Gly1131Val
ENST00000317961.8:c.3392G>T	ENSP00000322408.4:p.Gly1131Val
ENST00000382806.6:c.3221G>T	ENSP00000372256.2:p.Gly1074Val
ENST00000415360.1:c.308G>T	ENSP00000389433.1:p.Gly103Val
ENST00000440077.5:c.3269G>T	ENSP00000398543.1:p.Gly1090Val
ENST00000469599.6:n.1990G>T
ENST00000492117.1:n.3284G>T
ENST00000541639.5:c.3485G>T	ENSP00000444293.1:p.Gly1162Val
NM_001146705.1:c.3485G>T	NP_001140177.1:p.Gly1162Val
NM_001146706.1:c.3221G>T	NP_001140178.1:p.Gly1074Val
NM_004653.4:c.3392G>T	NP_004644.2:p.Gly1131Val
XM_005262560.1:c.3257G>T	XP_005262617.1:p.Gly1086Val
XM_005262561.1:c.3161G>T	XP_005262618.1:p.Gly1054Val
XM_011531468.1:c.3314G>T	XP_011529770.1:p.Gly1105Val
XR_244571.2:n.3680G>T
XR_430568.2:n.4014G>T
XM_005262560.3:c.3257G>T	XP_005262617.1:p.Gly1086Val
XM_005262561.3:c.3161G>T	XP_005262618.1:p.Gly1054Val
XM_011531468.3:c.3314G>T	XP_011529770.1:p.Gly1105Val
XM_024452495.1:c.1382G>T	XP_024308263.1:p.Gly461Val
XM_024452496.1:c.1148G>T	XP_024308264.1:p.Gly383Val
XR_001756009.2:n.4130G>T
XR_001756010.2:n.4130G>T
XR_001756011.2:n.3995G>T
XR_001756012.2:n.4143G>T
XR_001756013.2:n.3461G>T
XR_002958832.1:n.3562G>T
XR_002958834.1:n.3786G>T
XR_002958835.1:n.3669G>T
XR_002958836.1:n.4352G>T
XR_002958837.1:n.4159G>T
XR_244571.4:n.3679G>T
XR_430568.4:n.4013G>T
NM_001146706.2:c.3221G>T	NP_001140178.1:p.Gly1074Val
NM_004653.5:c.3392G>T MANE Select	NP_004644.2:p.Gly1131Val
NM_001146705.2:c.3485G>T	NP_001140177.1:p.Gly1162Val