Canonical Allele Identifier: CA414839741

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867884C>G (hg19) ; chrY:g.19705998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705998C>G , CM000686.2:g.19705998C>G	GRCh38
NC_000024.9:g.21867884C>G , CM000686.1:g.21867884C>G	GRCh37
NC_000024.8:g.20327272C>G	NCBI36
NG_032920.1:g.43942G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.4617G>C MANE Select	ENSP00000322408.4:p.Leu1539Phe
ENST00000317961.8:c.4617G>C	ENSP00000322408.4:p.Leu1539Phe
ENST00000382806.6:c.4446G>C	ENSP00000372256.2:p.Leu1482Phe
ENST00000469599.6:n.3368G>C
ENST00000492117.1:n.4662G>C
ENST00000541639.5:c.4710G>C	ENSP00000444293.1:p.Leu1570Phe
NM_001146705.1:c.4710G>C	NP_001140177.1:p.Leu1570Phe
NM_001146706.1:c.4446G>C	NP_001140178.1:p.Leu1482Phe
NM_004653.4:c.4617G>C	NP_004644.2:p.Leu1539Phe
XM_005262560.1:c.4482G>C	XP_005262617.1:p.Leu1494Phe
XM_005262561.1:c.4386G>C	XP_005262618.1:p.Leu1462Phe
XM_011531468.1:c.4539G>C	XP_011529770.1:p.Leu1513Phe
XR_430568.2:n.5392G>C
XM_005262560.3:c.4482G>C	XP_005262617.1:p.Leu1494Phe
XM_005262561.3:c.4386G>C	XP_005262618.1:p.Leu1462Phe
XM_011531468.3:c.4539G>C	XP_011529770.1:p.Leu1513Phe
XM_024452495.1:c.2607G>C	XP_024308263.1:p.Leu869Phe
XM_024452496.1:c.2373G>C	XP_024308264.1:p.Leu791Phe
XR_001756009.2:n.5355G>C
XR_001756010.2:n.5323G>C
XR_001756011.2:n.5220G>C
XR_001756012.2:n.5368G>C
XR_001756013.2:n.4686G>C
XR_002958832.1:n.4940G>C
XR_002958834.1:n.5011G>C
XR_002958835.1:n.4894G>C
XR_002958836.1:n.5545G>C
XR_002958837.1:n.5352G>C
XR_244571.4:n.4872G>C
XR_430568.4:n.5391G>C
NM_001146706.2:c.4446G>C	NP_001140178.1:p.Leu1482Phe
NM_004653.5:c.4617G>C MANE Select	NP_004644.2:p.Leu1539Phe
NM_001146705.2:c.4710G>C	NP_001140177.1:p.Leu1570Phe