Canonical Allele Identifier: CA414844308

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869841G>C (hg19) ; chrY:g.19707955G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707955G>C , CM000686.2:g.19707955G>C	GRCh38
NC_000024.9:g.21869841G>C , CM000686.1:g.21869841G>C	GRCh37
NC_000024.8:g.20329229G>C	NCBI36
NG_032920.1:g.41985C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3378C>G MANE Select	ENSP00000322408.4:p.Asp1126Glu
ENST00000317961.8:c.3378C>G	ENSP00000322408.4:p.Asp1126Glu
ENST00000382806.6:c.3207C>G	ENSP00000372256.2:p.Asp1069Glu
ENST00000415360.1:c.294C>G	ENSP00000389433.1:p.Asp98Glu
ENST00000440077.5:c.3255C>G	ENSP00000398543.1:p.Asp1085Glu
ENST00000469599.6:n.1976C>G
ENST00000492117.1:n.3270C>G
ENST00000541639.5:c.3471C>G	ENSP00000444293.1:p.Asp1157Glu
NM_001146705.1:c.3471C>G	NP_001140177.1:p.Asp1157Glu
NM_001146706.1:c.3207C>G	NP_001140178.1:p.Asp1069Glu
NM_004653.4:c.3378C>G	NP_004644.2:p.Asp1126Glu
XM_005262560.1:c.3243C>G	XP_005262617.1:p.Asp1081Glu
XM_005262561.1:c.3147C>G	XP_005262618.1:p.Asp1049Glu
XM_011531468.1:c.3300C>G	XP_011529770.1:p.Asp1100Glu
XR_244571.2:n.3666C>G
XR_430568.2:n.4000C>G
XM_005262560.3:c.3243C>G	XP_005262617.1:p.Asp1081Glu
XM_005262561.3:c.3147C>G	XP_005262618.1:p.Asp1049Glu
XM_011531468.3:c.3300C>G	XP_011529770.1:p.Asp1100Glu
XM_024452495.1:c.1368C>G	XP_024308263.1:p.Asp456Glu
XM_024452496.1:c.1134C>G	XP_024308264.1:p.Asp378Glu
XR_001756009.2:n.4116C>G
XR_001756010.2:n.4116C>G
XR_001756011.2:n.3981C>G
XR_001756012.2:n.4129C>G
XR_001756013.2:n.3447C>G
XR_002958832.1:n.3548C>G
XR_002958834.1:n.3772C>G
XR_002958835.1:n.3655C>G
XR_002958836.1:n.4338C>G
XR_002958837.1:n.4145C>G
XR_244571.4:n.3665C>G
XR_430568.4:n.3999C>G
NM_001146706.2:c.3207C>G	NP_001140178.1:p.Asp1069Glu
NM_004653.5:c.3378C>G MANE Select	NP_004644.2:p.Asp1126Glu
NM_001146705.2:c.3471C>G	NP_001140177.1:p.Asp1157Glu