Canonical Allele Identifier: CA414843571

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869446A>G (hg19) ; chrY:g.19707560A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707560A>G , CM000686.2:g.19707560A>G	GRCh38
NC_000024.9:g.21869446A>G , CM000686.1:g.21869446A>G	GRCh37
NC_000024.8:g.20328834A>G	NCBI36
NG_032920.1:g.42380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3586T>C MANE Select	ENSP00000322408.4:p.Phe1196Leu
ENST00000317961.8:c.3586T>C	ENSP00000322408.4:p.Phe1196Leu
ENST00000382806.6:c.3415T>C	ENSP00000372256.2:p.Phe1139Leu
ENST00000415360.1:c.502T>C	ENSP00000389433.1:p.Phe168Leu
ENST00000440077.5:c.3463T>C	ENSP00000398543.1:p.Phe1155Leu
ENST00000469599.6:n.2184T>C
ENST00000492117.1:n.3478T>C
ENST00000541639.5:c.3679T>C	ENSP00000444293.1:p.Phe1227Leu
NM_001146705.1:c.3679T>C	NP_001140177.1:p.Phe1227Leu
NM_001146706.1:c.3415T>C	NP_001140178.1:p.Phe1139Leu
NM_004653.4:c.3586T>C	NP_004644.2:p.Phe1196Leu
XM_005262560.1:c.3451T>C	XP_005262617.1:p.Phe1151Leu
XM_005262561.1:c.3355T>C	XP_005262618.1:p.Phe1119Leu
XM_011531468.1:c.3508T>C	XP_011529770.1:p.Phe1170Leu
XR_244571.2:n.3874T>C
XR_430568.2:n.4208T>C
XM_005262560.3:c.3451T>C	XP_005262617.1:p.Phe1151Leu
XM_005262561.3:c.3355T>C	XP_005262618.1:p.Phe1119Leu
XM_011531468.3:c.3508T>C	XP_011529770.1:p.Phe1170Leu
XM_024452495.1:c.1576T>C	XP_024308263.1:p.Phe526Leu
XM_024452496.1:c.1342T>C	XP_024308264.1:p.Phe448Leu
XR_001756009.2:n.4324T>C
XR_001756010.2:n.4324T>C
XR_001756011.2:n.4189T>C
XR_001756012.2:n.4337T>C
XR_001756013.2:n.3655T>C
XR_002958832.1:n.3756T>C
XR_002958834.1:n.3980T>C
XR_002958835.1:n.3863T>C
XR_002958836.1:n.4546T>C
XR_002958837.1:n.4353T>C
XR_244571.4:n.3873T>C
XR_430568.4:n.4207T>C
NM_001146706.2:c.3415T>C	NP_001140178.1:p.Phe1139Leu
NM_004653.5:c.3586T>C MANE Select	NP_004644.2:p.Phe1196Leu
NM_001146705.2:c.3679T>C	NP_001140177.1:p.Phe1227Leu