Canonical Allele Identifier: CA414843535

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869437G>C (hg19) ; chrY:g.19707551G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707551G>C , CM000686.2:g.19707551G>C	GRCh38
NC_000024.9:g.21869437G>C , CM000686.1:g.21869437G>C	GRCh37
NC_000024.8:g.20328825G>C	NCBI36
NG_032920.1:g.42389C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3595C>G MANE Select	ENSP00000322408.4:p.Gln1199Glu
ENST00000317961.8:c.3595C>G	ENSP00000322408.4:p.Gln1199Glu
ENST00000382806.6:c.3424C>G	ENSP00000372256.2:p.Gln1142Glu
ENST00000415360.1:c.511C>G	ENSP00000389433.1:p.Gln171Glu
ENST00000440077.5:c.3472C>G	ENSP00000398543.1:p.Gln1158Glu
ENST00000469599.6:n.2193C>G
ENST00000492117.1:n.3487C>G
ENST00000541639.5:c.3688C>G	ENSP00000444293.1:p.Gln1230Glu
NM_001146705.1:c.3688C>G	NP_001140177.1:p.Gln1230Glu
NM_001146706.1:c.3424C>G	NP_001140178.1:p.Gln1142Glu
NM_004653.4:c.3595C>G	NP_004644.2:p.Gln1199Glu
XM_005262560.1:c.3460C>G	XP_005262617.1:p.Gln1154Glu
XM_005262561.1:c.3364C>G	XP_005262618.1:p.Gln1122Glu
XM_011531468.1:c.3517C>G	XP_011529770.1:p.Gln1173Glu
XR_244571.2:n.3883C>G
XR_430568.2:n.4217C>G
XM_005262560.3:c.3460C>G	XP_005262617.1:p.Gln1154Glu
XM_005262561.3:c.3364C>G	XP_005262618.1:p.Gln1122Glu
XM_011531468.3:c.3517C>G	XP_011529770.1:p.Gln1173Glu
XM_024452495.1:c.1585C>G	XP_024308263.1:p.Gln529Glu
XM_024452496.1:c.1351C>G	XP_024308264.1:p.Gln451Glu
XR_001756009.2:n.4333C>G
XR_001756010.2:n.4333C>G
XR_001756011.2:n.4198C>G
XR_001756012.2:n.4346C>G
XR_001756013.2:n.3664C>G
XR_002958832.1:n.3765C>G
XR_002958834.1:n.3989C>G
XR_002958835.1:n.3872C>G
XR_002958836.1:n.4555C>G
XR_002958837.1:n.4362C>G
XR_244571.4:n.3882C>G
XR_430568.4:n.4216C>G
NM_001146706.2:c.3424C>G	NP_001140178.1:p.Gln1142Glu
NM_004653.5:c.3595C>G MANE Select	NP_004644.2:p.Gln1199Glu
NM_001146705.2:c.3688C>G	NP_001140177.1:p.Gln1230Glu