Canonical Allele Identifier: CA414843487

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869424A>C (hg19) ; chrY:g.19707538A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707538A>C , CM000686.2:g.19707538A>C	GRCh38
NC_000024.9:g.21869424A>C , CM000686.1:g.21869424A>C	GRCh37
NC_000024.8:g.20328812A>C	NCBI36
NG_032920.1:g.42402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3608T>G MANE Select	ENSP00000322408.4:p.Val1203Gly
ENST00000317961.8:c.3608T>G	ENSP00000322408.4:p.Val1203Gly
ENST00000382806.6:c.3437T>G	ENSP00000372256.2:p.Val1146Gly
ENST00000415360.1:c.524T>G	ENSP00000389433.1:p.Val175Gly
ENST00000440077.5:c.3485T>G	ENSP00000398543.1:p.Val1162Gly
ENST00000469599.6:n.2206T>G
ENST00000492117.1:n.3500T>G
ENST00000541639.5:c.3701T>G	ENSP00000444293.1:p.Val1234Gly
NM_001146705.1:c.3701T>G	NP_001140177.1:p.Val1234Gly
NM_001146706.1:c.3437T>G	NP_001140178.1:p.Val1146Gly
NM_004653.4:c.3608T>G	NP_004644.2:p.Val1203Gly
XM_005262560.1:c.3473T>G	XP_005262617.1:p.Val1158Gly
XM_005262561.1:c.3377T>G	XP_005262618.1:p.Val1126Gly
XM_011531468.1:c.3530T>G	XP_011529770.1:p.Val1177Gly
XR_244571.2:n.3896T>G
XR_430568.2:n.4230T>G
XM_005262560.3:c.3473T>G	XP_005262617.1:p.Val1158Gly
XM_005262561.3:c.3377T>G	XP_005262618.1:p.Val1126Gly
XM_011531468.3:c.3530T>G	XP_011529770.1:p.Val1177Gly
XM_024452495.1:c.1598T>G	XP_024308263.1:p.Val533Gly
XM_024452496.1:c.1364T>G	XP_024308264.1:p.Val455Gly
XR_001756009.2:n.4346T>G
XR_001756010.2:n.4346T>G
XR_001756011.2:n.4211T>G
XR_001756012.2:n.4359T>G
XR_001756013.2:n.3677T>G
XR_002958832.1:n.3778T>G
XR_002958834.1:n.4002T>G
XR_002958835.1:n.3885T>G
XR_002958836.1:n.4568T>G
XR_002958837.1:n.4375T>G
XR_244571.4:n.3895T>G
XR_430568.4:n.4229T>G
NM_001146706.2:c.3437T>G	NP_001140178.1:p.Val1146Gly
NM_004653.5:c.3608T>G MANE Select	NP_004644.2:p.Val1203Gly
NM_001146705.2:c.3701T>G	NP_001140177.1:p.Val1234Gly