Canonical Allele Identifier: CA414841768

Gene: KDM5D

Linked Data

• COSMIC: COSM5695844
• MyVariant Identifiers: chrY:g.21894542G>C (hg19) ; chrY:g.19732656G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732656G>C , CM000686.2:g.19732656G>C	GRCh38
NC_000024.9:g.21894542G>C , CM000686.1:g.21894542G>C	GRCh37
NC_000024.8:g.20353930G>C	NCBI36
NG_032920.1:g.17284C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.1020C>G MANE Select	ENSP00000322408.4:p.His340Gln
ENST00000317961.8:c.1020C>G	ENSP00000322408.4:p.His340Gln
ENST00000382806.6:c.849C>G	ENSP00000372256.2:p.His283Gln
ENST00000440077.5:c.897C>G	ENSP00000398543.1:p.His299Gln
ENST00000447300.1:c.885C>G	ENSP00000416377.1:p.His295Gln
ENST00000541639.5:c.1020C>G	ENSP00000444293.1:p.His340Gln
NM_001146705.1:c.1020C>G	NP_001140177.1:p.His340Gln
NM_001146706.1:c.849C>G	NP_001140178.1:p.His283Gln
NM_004653.4:c.1020C>G	NP_004644.2:p.His340Gln
XM_005262560.1:c.885C>G	XP_005262617.1:p.His295Gln
XM_005262561.1:c.1020C>G	XP_005262618.1:p.His340Gln
XM_005262562.2:c.1020C>G	XP_005262619.1:p.His340Gln
XM_011531468.1:c.1020C>G	XP_011529770.1:p.His340Gln
XR_244571.2:n.1308C>G
XR_430568.2:n.1308C>G
XR_938609.1:n.1308C>G
XR_938610.1:n.1308C>G
XM_005262560.3:c.885C>G	XP_005262617.1:p.His295Gln
XM_005262561.3:c.1020C>G	XP_005262618.1:p.His340Gln
XM_011531468.3:c.1020C>G	XP_011529770.1:p.His340Gln
XM_024452495.1:c.-1098C>G	XP_024308263.1:n.-1098C>G
XR_001756009.2:n.1307C>G
XR_001756010.2:n.1307C>G
XR_001756011.2:n.1172C>G
XR_001756012.2:n.1307C>G
XR_001756013.2:n.1307C>G
XR_002958832.1:n.1307C>G
XR_002958833.1:n.1307C>G
XR_002958834.1:n.1307C>G
XR_002958835.1:n.1307C>G
XR_002958836.1:n.1307C>G
XR_002958837.1:n.1307C>G
XR_244571.4:n.1307C>G
XR_430568.4:n.1307C>G
NM_001146706.2:c.849C>G	NP_001140178.1:p.His283Gln
NM_004653.5:c.1020C>G MANE Select	NP_004644.2:p.His340Gln
NM_001146705.2:c.1020C>G	NP_001140177.1:p.His340Gln