Canonical Allele Identifier: CA414843451

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3619C>T MANE Select	ENSP00000322408.4:p.Leu1207Phe
ENST00000317961.8:c.3619C>T	ENSP00000322408.4:p.Leu1207Phe
ENST00000382806.6:c.3448C>T	ENSP00000372256.2:p.Leu1150Phe
ENST00000415360.1:c.535C>T	ENSP00000389433.1:p.Leu179Phe
ENST00000440077.5:c.3496C>T	ENSP00000398543.1:p.Leu1166Phe
ENST00000469599.6:n.2217C>T
ENST00000492117.1:n.3511C>T
ENST00000541639.5:c.3712C>T	ENSP00000444293.1:p.Leu1238Phe
NM_001146705.1:c.3712C>T	NP_001140177.1:p.Leu1238Phe
NM_001146706.1:c.3448C>T	NP_001140178.1:p.Leu1150Phe
NM_004653.4:c.3619C>T	NP_004644.2:p.Leu1207Phe
XM_005262560.1:c.3484C>T	XP_005262617.1:p.Leu1162Phe
XM_005262561.1:c.3388C>T	XP_005262618.1:p.Leu1130Phe
XM_011531468.1:c.3541C>T	XP_011529770.1:p.Leu1181Phe
XR_244571.2:n.3907C>T
XR_430568.2:n.4241C>T
XM_005262560.3:c.3484C>T	XP_005262617.1:p.Leu1162Phe
XM_005262561.3:c.3388C>T	XP_005262618.1:p.Leu1130Phe
XM_011531468.3:c.3541C>T	XP_011529770.1:p.Leu1181Phe
XM_024452495.1:c.1609C>T	XP_024308263.1:p.Leu537Phe
XM_024452496.1:c.1375C>T	XP_024308264.1:p.Leu459Phe
XR_001756009.2:n.4357C>T
XR_001756010.2:n.4357C>T
XR_001756011.2:n.4222C>T
XR_001756012.2:n.4370C>T
XR_001756013.2:n.3688C>T
XR_002958832.1:n.3789C>T
XR_002958834.1:n.4013C>T
XR_002958835.1:n.3896C>T
XR_002958836.1:n.4579C>T
XR_002958837.1:n.4386C>T
XR_244571.4:n.3906C>T
XR_430568.4:n.4240C>T
NM_001146706.2:c.3448C>T	NP_001140178.1:p.Leu1150Phe
NM_004653.5:c.3619C>T MANE Select	NP_004644.2:p.Leu1207Phe
NM_001146705.2:c.3712C>T	NP_001140177.1:p.Leu1238Phe