Canonical Allele Identifier: CA414844451

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869883C>G (hg19) ; chrY:g.19707997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707997C>G , CM000686.2:g.19707997C>G	GRCh38
NC_000024.9:g.21869883C>G , CM000686.1:g.21869883C>G	GRCh37
NC_000024.8:g.20329271C>G	NCBI36
NG_032920.1:g.41943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3336G>C MANE Select	ENSP00000322408.4:p.Leu1112Phe
ENST00000317961.8:c.3336G>C	ENSP00000322408.4:p.Leu1112Phe
ENST00000382806.6:c.3165G>C	ENSP00000372256.2:p.Leu1055Phe
ENST00000415360.1:c.252G>C	ENSP00000389433.1:p.Leu84Phe
ENST00000440077.5:c.3213G>C	ENSP00000398543.1:p.Leu1071Phe
ENST00000469599.6:n.1934G>C
ENST00000492117.1:n.3228G>C
ENST00000541639.5:c.3429G>C	ENSP00000444293.1:p.Leu1143Phe
NM_001146705.1:c.3429G>C	NP_001140177.1:p.Leu1143Phe
NM_001146706.1:c.3165G>C	NP_001140178.1:p.Leu1055Phe
NM_004653.4:c.3336G>C	NP_004644.2:p.Leu1112Phe
XM_005262560.1:c.3201G>C	XP_005262617.1:p.Leu1067Phe
XM_005262561.1:c.3105G>C	XP_005262618.1:p.Leu1035Phe
XM_011531468.1:c.3258G>C	XP_011529770.1:p.Leu1086Phe
XR_244571.2:n.3624G>C
XR_430568.2:n.3958G>C
XM_005262560.3:c.3201G>C	XP_005262617.1:p.Leu1067Phe
XM_005262561.3:c.3105G>C	XP_005262618.1:p.Leu1035Phe
XM_011531468.3:c.3258G>C	XP_011529770.1:p.Leu1086Phe
XM_024452495.1:c.1326G>C	XP_024308263.1:p.Leu442Phe
XM_024452496.1:c.1092G>C	XP_024308264.1:p.Leu364Phe
XR_001756009.2:n.4074G>C
XR_001756010.2:n.4074G>C
XR_001756011.2:n.3939G>C
XR_001756012.2:n.4087G>C
XR_001756013.2:n.3405G>C
XR_002958832.1:n.3506G>C
XR_002958834.1:n.3730G>C
XR_002958835.1:n.3613G>C
XR_002958836.1:n.4296G>C
XR_002958837.1:n.4103G>C
XR_244571.4:n.3623G>C
XR_430568.4:n.3957G>C
NM_001146706.2:c.3165G>C	NP_001140178.1:p.Leu1055Phe
NM_004653.5:c.3336G>C MANE Select	NP_004644.2:p.Leu1112Phe
NM_001146705.2:c.3429G>C	NP_001140177.1:p.Leu1143Phe