Canonical Allele Identifier: CA414843305

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869370G>A (hg19) ; chrY:g.19707484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707484G>A , CM000686.2:g.19707484G>A	GRCh38
NC_000024.9:g.21869370G>A , CM000686.1:g.21869370G>A	GRCh37
NC_000024.8:g.20328758G>A	NCBI36
NG_032920.1:g.42456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3662C>T MANE Select	ENSP00000322408.4:p.Ala1221Val
ENST00000317961.8:c.3662C>T	ENSP00000322408.4:p.Ala1221Val
ENST00000382806.6:c.3491C>T	ENSP00000372256.2:p.Ala1164Val
ENST00000415360.1:c.578C>T	ENSP00000389433.1:p.Ala193Val
ENST00000440077.5:c.3539C>T	ENSP00000398543.1:p.Ala1180Val
ENST00000469599.6:n.2260C>T
ENST00000492117.1:n.3554C>T
ENST00000541639.5:c.3755C>T	ENSP00000444293.1:p.Ala1252Val
NM_001146705.1:c.3755C>T	NP_001140177.1:p.Ala1252Val
NM_001146706.1:c.3491C>T	NP_001140178.1:p.Ala1164Val
NM_004653.4:c.3662C>T	NP_004644.2:p.Ala1221Val
XM_005262560.1:c.3527C>T	XP_005262617.1:p.Ala1176Val
XM_005262561.1:c.3431C>T	XP_005262618.1:p.Ala1144Val
XM_011531468.1:c.3584C>T	XP_011529770.1:p.Ala1195Val
XR_244571.2:n.3950C>T
XR_430568.2:n.4284C>T
XM_005262560.3:c.3527C>T	XP_005262617.1:p.Ala1176Val
XM_005262561.3:c.3431C>T	XP_005262618.1:p.Ala1144Val
XM_011531468.3:c.3584C>T	XP_011529770.1:p.Ala1195Val
XM_024452495.1:c.1652C>T	XP_024308263.1:p.Ala551Val
XM_024452496.1:c.1418C>T	XP_024308264.1:p.Ala473Val
XR_001756009.2:n.4400C>T
XR_001756010.2:n.4400C>T
XR_001756011.2:n.4265C>T
XR_001756012.2:n.4413C>T
XR_001756013.2:n.3731C>T
XR_002958832.1:n.3832C>T
XR_002958834.1:n.4056C>T
XR_002958835.1:n.3939C>T
XR_002958836.1:n.4622C>T
XR_002958837.1:n.4429C>T
XR_244571.4:n.3949C>T
XR_430568.4:n.4283C>T
NM_001146706.2:c.3491C>T	NP_001140178.1:p.Ala1164Val
NM_004653.5:c.3662C>T MANE Select	NP_004644.2:p.Ala1221Val
NM_001146705.2:c.3755C>T	NP_001140177.1:p.Ala1252Val