Canonical Allele Identifier: CA10574659

Gene: KDM5D

Linked Data

• dbSNP Id: rs760018135
• ExAC: Y:21867933 G / T
• gnomAD v2: Y-21867933-G-T
• MyVariant Identifiers: chrY:g.21867933G>T (hg19) ; chrY:g.19706047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706047G>T , CM000686.2:g.19706047G>T	GRCh38
NC_000024.9:g.21867933G>T , CM000686.1:g.21867933G>T	GRCh37
NC_000024.8:g.20327321G>T	NCBI36
NG_032920.1:g.43893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4568C>A MANE Select	ENSP00000322408.4:p.Pro1523His
ENST00000317961.8:c.4568C>A	ENSP00000322408.4:p.Pro1523His
ENST00000382806.6:c.4397C>A	ENSP00000372256.2:p.Pro1466His
ENST00000469599.6:n.3319C>A
ENST00000492117.1:n.4613C>A
ENST00000541639.5:c.4661C>A	ENSP00000444293.1:p.Pro1554His
NM_001146705.1:c.4661C>A	NP_001140177.1:p.Pro1554His
NM_001146706.1:c.4397C>A	NP_001140178.1:p.Pro1466His
NM_004653.4:c.4568C>A	NP_004644.2:p.Pro1523His
XM_005262560.1:c.4433C>A	XP_005262617.1:p.Pro1478His
XM_005262561.1:c.4337C>A	XP_005262618.1:p.Pro1446His
XM_011531468.1:c.4490C>A	XP_011529770.1:p.Pro1497His
XR_430568.2:n.5343C>A
XM_005262560.3:c.4433C>A	XP_005262617.1:p.Pro1478His
XM_005262561.3:c.4337C>A	XP_005262618.1:p.Pro1446His
XM_011531468.3:c.4490C>A	XP_011529770.1:p.Pro1497His
XM_024452495.1:c.2558C>A	XP_024308263.1:p.Pro853His
XM_024452496.1:c.2324C>A	XP_024308264.1:p.Pro775His
XR_001756009.2:n.5306C>A
XR_001756010.2:n.5274C>A
XR_001756011.2:n.5171C>A
XR_001756012.2:n.5319C>A
XR_001756013.2:n.4637C>A
XR_002958832.1:n.4891C>A
XR_002958834.1:n.4962C>A
XR_002958835.1:n.4845C>A
XR_002958836.1:n.5496C>A
XR_002958837.1:n.5303C>A
XR_244571.4:n.4823C>A
XR_430568.4:n.5342C>A
NM_001146706.2:c.4397C>A	NP_001140178.1:p.Pro1466His
NM_004653.5:c.4568C>A MANE Select	NP_004644.2:p.Pro1523His
NM_001146705.2:c.4661C>A	NP_001140177.1:p.Pro1554His