Canonical Allele Identifier: CA414843304

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869370G>C (hg19) ; chrY:g.19707484G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707484G>C , CM000686.2:g.19707484G>C	GRCh38
NC_000024.9:g.21869370G>C , CM000686.1:g.21869370G>C	GRCh37
NC_000024.8:g.20328758G>C	NCBI36
NG_032920.1:g.42456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3662C>G MANE Select	ENSP00000322408.4:p.Ala1221Gly
ENST00000317961.8:c.3662C>G	ENSP00000322408.4:p.Ala1221Gly
ENST00000382806.6:c.3491C>G	ENSP00000372256.2:p.Ala1164Gly
ENST00000415360.1:c.578C>G	ENSP00000389433.1:p.Ala193Gly
ENST00000440077.5:c.3539C>G	ENSP00000398543.1:p.Ala1180Gly
ENST00000469599.6:n.2260C>G
ENST00000492117.1:n.3554C>G
ENST00000541639.5:c.3755C>G	ENSP00000444293.1:p.Ala1252Gly
NM_001146705.1:c.3755C>G	NP_001140177.1:p.Ala1252Gly
NM_001146706.1:c.3491C>G	NP_001140178.1:p.Ala1164Gly
NM_004653.4:c.3662C>G	NP_004644.2:p.Ala1221Gly
XM_005262560.1:c.3527C>G	XP_005262617.1:p.Ala1176Gly
XM_005262561.1:c.3431C>G	XP_005262618.1:p.Ala1144Gly
XM_011531468.1:c.3584C>G	XP_011529770.1:p.Ala1195Gly
XR_244571.2:n.3950C>G
XR_430568.2:n.4284C>G
XM_005262560.3:c.3527C>G	XP_005262617.1:p.Ala1176Gly
XM_005262561.3:c.3431C>G	XP_005262618.1:p.Ala1144Gly
XM_011531468.3:c.3584C>G	XP_011529770.1:p.Ala1195Gly
XM_024452495.1:c.1652C>G	XP_024308263.1:p.Ala551Gly
XM_024452496.1:c.1418C>G	XP_024308264.1:p.Ala473Gly
XR_001756009.2:n.4400C>G
XR_001756010.2:n.4400C>G
XR_001756011.2:n.4265C>G
XR_001756012.2:n.4413C>G
XR_001756013.2:n.3731C>G
XR_002958832.1:n.3832C>G
XR_002958834.1:n.4056C>G
XR_002958835.1:n.3939C>G
XR_002958836.1:n.4622C>G
XR_002958837.1:n.4429C>G
XR_244571.4:n.3949C>G
XR_430568.4:n.4283C>G
NM_001146706.2:c.3491C>G	NP_001140178.1:p.Ala1164Gly
NM_004653.5:c.3662C>G MANE Select	NP_004644.2:p.Ala1221Gly
NM_001146705.2:c.3755C>G	NP_001140177.1:p.Ala1252Gly