Canonical Allele Identifier: CA414843236

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869354G>C (hg19) ; chrY:g.19707468G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707468G>C , CM000686.2:g.19707468G>C	GRCh38
NC_000024.9:g.21869354G>C , CM000686.1:g.21869354G>C	GRCh37
NC_000024.8:g.20328742G>C	NCBI36
NG_032920.1:g.42472C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3678C>G MANE Select	ENSP00000322408.4:p.Asp1226Glu
ENST00000317961.8:c.3678C>G	ENSP00000322408.4:p.Asp1226Glu
ENST00000382806.6:c.3507C>G	ENSP00000372256.2:p.Asp1169Glu
ENST00000415360.1:c.594C>G	ENSP00000389433.1:p.Asp198Glu
ENST00000440077.5:c.3555C>G	ENSP00000398543.1:p.Asp1185Glu
ENST00000469599.6:n.2276C>G
ENST00000492117.1:n.3570C>G
ENST00000541639.5:c.3771C>G	ENSP00000444293.1:p.Asp1257Glu
NM_001146705.1:c.3771C>G	NP_001140177.1:p.Asp1257Glu
NM_001146706.1:c.3507C>G	NP_001140178.1:p.Asp1169Glu
NM_004653.4:c.3678C>G	NP_004644.2:p.Asp1226Glu
XM_005262560.1:c.3543C>G	XP_005262617.1:p.Asp1181Glu
XM_005262561.1:c.3447C>G	XP_005262618.1:p.Asp1149Glu
XM_011531468.1:c.3600C>G	XP_011529770.1:p.Asp1200Glu
XR_244571.2:n.3966C>G
XR_430568.2:n.4300C>G
XM_005262560.3:c.3543C>G	XP_005262617.1:p.Asp1181Glu
XM_005262561.3:c.3447C>G	XP_005262618.1:p.Asp1149Glu
XM_011531468.3:c.3600C>G	XP_011529770.1:p.Asp1200Glu
XM_024452495.1:c.1668C>G	XP_024308263.1:p.Asp556Glu
XM_024452496.1:c.1434C>G	XP_024308264.1:p.Asp478Glu
XR_001756009.2:n.4416C>G
XR_001756010.2:n.4416C>G
XR_001756011.2:n.4281C>G
XR_001756012.2:n.4429C>G
XR_001756013.2:n.3747C>G
XR_002958832.1:n.3848C>G
XR_002958834.1:n.4072C>G
XR_002958835.1:n.3955C>G
XR_002958836.1:n.4638C>G
XR_002958837.1:n.4445C>G
XR_244571.4:n.3965C>G
XR_430568.4:n.4299C>G
NM_001146706.2:c.3507C>G	NP_001140178.1:p.Asp1169Glu
NM_004653.5:c.3678C>G MANE Select	NP_004644.2:p.Asp1226Glu
NM_001146705.2:c.3771C>G	NP_001140177.1:p.Asp1257Glu