Canonical Allele Identifier: CA414843840

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869515A>C (hg19) ; chrY:g.19707629A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707629A>C , CM000686.2:g.19707629A>C	GRCh38
NC_000024.9:g.21869515A>C , CM000686.1:g.21869515A>C	GRCh37
NC_000024.8:g.20328903A>C	NCBI36
NG_032920.1:g.42311T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3517T>G MANE Select	ENSP00000322408.4:p.Ser1173Ala
ENST00000317961.8:c.3517T>G	ENSP00000322408.4:p.Ser1173Ala
ENST00000382806.6:c.3346T>G	ENSP00000372256.2:p.Ser1116Ala
ENST00000415360.1:c.433T>G	ENSP00000389433.1:p.Ser145Ala
ENST00000440077.5:c.3394T>G	ENSP00000398543.1:p.Ser1132Ala
ENST00000469599.6:n.2115T>G
ENST00000492117.1:n.3409T>G
ENST00000541639.5:c.3610T>G	ENSP00000444293.1:p.Ser1204Ala
NM_001146705.1:c.3610T>G	NP_001140177.1:p.Ser1204Ala
NM_001146706.1:c.3346T>G	NP_001140178.1:p.Ser1116Ala
NM_004653.4:c.3517T>G	NP_004644.2:p.Ser1173Ala
XM_005262560.1:c.3382T>G	XP_005262617.1:p.Ser1128Ala
XM_005262561.1:c.3286T>G	XP_005262618.1:p.Ser1096Ala
XM_011531468.1:c.3439T>G	XP_011529770.1:p.Ser1147Ala
XR_244571.2:n.3805T>G
XR_430568.2:n.4139T>G
XM_005262560.3:c.3382T>G	XP_005262617.1:p.Ser1128Ala
XM_005262561.3:c.3286T>G	XP_005262618.1:p.Ser1096Ala
XM_011531468.3:c.3439T>G	XP_011529770.1:p.Ser1147Ala
XM_024452495.1:c.1507T>G	XP_024308263.1:p.Ser503Ala
XM_024452496.1:c.1273T>G	XP_024308264.1:p.Ser425Ala
XR_001756009.2:n.4255T>G
XR_001756010.2:n.4255T>G
XR_001756011.2:n.4120T>G
XR_001756012.2:n.4268T>G
XR_001756013.2:n.3586T>G
XR_002958832.1:n.3687T>G
XR_002958834.1:n.3911T>G
XR_002958835.1:n.3794T>G
XR_002958836.1:n.4477T>G
XR_002958837.1:n.4284T>G
XR_244571.4:n.3804T>G
XR_430568.4:n.4138T>G
NM_001146706.2:c.3346T>G	NP_001140178.1:p.Ser1116Ala
NM_004653.5:c.3517T>G MANE Select	NP_004644.2:p.Ser1173Ala
NM_001146705.2:c.3610T>G	NP_001140177.1:p.Ser1204Ala