Canonical Allele Identifier: CA414840056

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867967G>C (hg19) ; chrY:g.19706081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706081G>C , CM000686.2:g.19706081G>C	GRCh38
NC_000024.9:g.21867967G>C , CM000686.1:g.21867967G>C	GRCh37
NC_000024.8:g.20327355G>C	NCBI36
NG_032920.1:g.43859C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4534C>G MANE Select	ENSP00000322408.4:p.Gln1512Glu
ENST00000317961.8:c.4534C>G	ENSP00000322408.4:p.Gln1512Glu
ENST00000382806.6:c.4363C>G	ENSP00000372256.2:p.Gln1455Glu
ENST00000440077.5:c.4411C>G	ENSP00000398543.1:p.Gln1471Glu
ENST00000469599.6:n.3285C>G
ENST00000492117.1:n.4579C>G
ENST00000541639.5:c.4627C>G	ENSP00000444293.1:p.Gln1543Glu
NM_001146705.1:c.4627C>G	NP_001140177.1:p.Gln1543Glu
NM_001146706.1:c.4363C>G	NP_001140178.1:p.Gln1455Glu
NM_004653.4:c.4534C>G	NP_004644.2:p.Gln1512Glu
XM_005262560.1:c.4399C>G	XP_005262617.1:p.Gln1467Glu
XM_005262561.1:c.4303C>G	XP_005262618.1:p.Gln1435Glu
XM_011531468.1:c.4456C>G	XP_011529770.1:p.Gln1486Glu
XR_430568.2:n.5309C>G
XM_005262560.3:c.4399C>G	XP_005262617.1:p.Gln1467Glu
XM_005262561.3:c.4303C>G	XP_005262618.1:p.Gln1435Glu
XM_011531468.3:c.4456C>G	XP_011529770.1:p.Gln1486Glu
XM_024452495.1:c.2524C>G	XP_024308263.1:p.Gln842Glu
XM_024452496.1:c.2290C>G	XP_024308264.1:p.Gln764Glu
XR_001756009.2:n.5272C>G
XR_001756010.2:n.5240C>G
XR_001756011.2:n.5137C>G
XR_001756012.2:n.5285C>G
XR_001756013.2:n.4603C>G
XR_002958832.1:n.4857C>G
XR_002958834.1:n.4928C>G
XR_002958835.1:n.4811C>G
XR_002958836.1:n.5462C>G
XR_002958837.1:n.5269C>G
XR_244571.4:n.4789C>G
XR_430568.4:n.5308C>G
NM_001146706.2:c.4363C>G	NP_001140178.1:p.Gln1455Glu
NM_004653.5:c.4534C>G MANE Select	NP_004644.2:p.Gln1512Glu
NM_001146705.2:c.4627C>G	NP_001140177.1:p.Gln1543Glu