Canonical Allele Identifier: CA414843453

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869413G>C (hg19) ; chrY:g.19707527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707527G>C , CM000686.2:g.19707527G>C	GRCh38
NC_000024.9:g.21869413G>C , CM000686.1:g.21869413G>C	GRCh37
NC_000024.8:g.20328801G>C	NCBI36
NG_032920.1:g.42413C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3619C>G MANE Select	ENSP00000322408.4:p.Leu1207Val
ENST00000317961.8:c.3619C>G	ENSP00000322408.4:p.Leu1207Val
ENST00000382806.6:c.3448C>G	ENSP00000372256.2:p.Leu1150Val
ENST00000415360.1:c.535C>G	ENSP00000389433.1:p.Leu179Val
ENST00000440077.5:c.3496C>G	ENSP00000398543.1:p.Leu1166Val
ENST00000469599.6:n.2217C>G
ENST00000492117.1:n.3511C>G
ENST00000541639.5:c.3712C>G	ENSP00000444293.1:p.Leu1238Val
NM_001146705.1:c.3712C>G	NP_001140177.1:p.Leu1238Val
NM_001146706.1:c.3448C>G	NP_001140178.1:p.Leu1150Val
NM_004653.4:c.3619C>G	NP_004644.2:p.Leu1207Val
XM_005262560.1:c.3484C>G	XP_005262617.1:p.Leu1162Val
XM_005262561.1:c.3388C>G	XP_005262618.1:p.Leu1130Val
XM_011531468.1:c.3541C>G	XP_011529770.1:p.Leu1181Val
XR_244571.2:n.3907C>G
XR_430568.2:n.4241C>G
XM_005262560.3:c.3484C>G	XP_005262617.1:p.Leu1162Val
XM_005262561.3:c.3388C>G	XP_005262618.1:p.Leu1130Val
XM_011531468.3:c.3541C>G	XP_011529770.1:p.Leu1181Val
XM_024452495.1:c.1609C>G	XP_024308263.1:p.Leu537Val
XM_024452496.1:c.1375C>G	XP_024308264.1:p.Leu459Val
XR_001756009.2:n.4357C>G
XR_001756010.2:n.4357C>G
XR_001756011.2:n.4222C>G
XR_001756012.2:n.4370C>G
XR_001756013.2:n.3688C>G
XR_002958832.1:n.3789C>G
XR_002958834.1:n.4013C>G
XR_002958835.1:n.3896C>G
XR_002958836.1:n.4579C>G
XR_002958837.1:n.4386C>G
XR_244571.4:n.3906C>G
XR_430568.4:n.4240C>G
NM_001146706.2:c.3448C>G	NP_001140178.1:p.Leu1150Val
NM_004653.5:c.3619C>G MANE Select	NP_004644.2:p.Leu1207Val
NM_001146705.2:c.3712C>G	NP_001140177.1:p.Leu1238Val