Canonical Allele Identifier: CA414844123

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869608G>C (hg19) ; chrY:g.19707722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707722G>C , CM000686.2:g.19707722G>C	GRCh38
NC_000024.9:g.21869608G>C , CM000686.1:g.21869608G>C	GRCh37
NC_000024.8:g.20328996G>C	NCBI36
NG_032920.1:g.42218C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3424C>G MANE Select	ENSP00000322408.4:p.Gln1142Glu
ENST00000317961.8:c.3424C>G	ENSP00000322408.4:p.Gln1142Glu
ENST00000382806.6:c.3253C>G	ENSP00000372256.2:p.Gln1085Glu
ENST00000415360.1:c.340C>G	ENSP00000389433.1:p.Gln114Glu
ENST00000440077.5:c.3301C>G	ENSP00000398543.1:p.Gln1101Glu
ENST00000469599.6:n.2022C>G
ENST00000492117.1:n.3316C>G
ENST00000541639.5:c.3517C>G	ENSP00000444293.1:p.Gln1173Glu
NM_001146705.1:c.3517C>G	NP_001140177.1:p.Gln1173Glu
NM_001146706.1:c.3253C>G	NP_001140178.1:p.Gln1085Glu
NM_004653.4:c.3424C>G	NP_004644.2:p.Gln1142Glu
XM_005262560.1:c.3289C>G	XP_005262617.1:p.Gln1097Glu
XM_005262561.1:c.3193C>G	XP_005262618.1:p.Gln1065Glu
XM_011531468.1:c.3346C>G	XP_011529770.1:p.Gln1116Glu
XR_244571.2:n.3712C>G
XR_430568.2:n.4046C>G
XM_005262560.3:c.3289C>G	XP_005262617.1:p.Gln1097Glu
XM_005262561.3:c.3193C>G	XP_005262618.1:p.Gln1065Glu
XM_011531468.3:c.3346C>G	XP_011529770.1:p.Gln1116Glu
XM_024452495.1:c.1414C>G	XP_024308263.1:p.Gln472Glu
XM_024452496.1:c.1180C>G	XP_024308264.1:p.Gln394Glu
XR_001756009.2:n.4162C>G
XR_001756010.2:n.4162C>G
XR_001756011.2:n.4027C>G
XR_001756012.2:n.4175C>G
XR_001756013.2:n.3493C>G
XR_002958832.1:n.3594C>G
XR_002958834.1:n.3818C>G
XR_002958835.1:n.3701C>G
XR_002958836.1:n.4384C>G
XR_002958837.1:n.4191C>G
XR_244571.4:n.3711C>G
XR_430568.4:n.4045C>G
NM_001146706.2:c.3253C>G	NP_001140178.1:p.Gln1085Glu
NM_004653.5:c.3424C>G MANE Select	NP_004644.2:p.Gln1142Glu
NM_001146705.2:c.3517C>G	NP_001140177.1:p.Gln1173Glu