Canonical Allele Identifier: CA414844650

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869924T>A (hg19) ; chrY:g.19708038T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708038T>A , CM000686.2:g.19708038T>A	GRCh38
NC_000024.9:g.21869924T>A , CM000686.1:g.21869924T>A	GRCh37
NC_000024.8:g.20329312T>A	NCBI36
NG_032920.1:g.41902A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3295A>T MANE Select	ENSP00000322408.4:p.Ser1099Cys
ENST00000317961.8:c.3295A>T	ENSP00000322408.4:p.Ser1099Cys
ENST00000382806.6:c.3124A>T	ENSP00000372256.2:p.Ser1042Cys
ENST00000415360.1:c.211A>T	ENSP00000389433.1:p.Ser71Cys
ENST00000440077.5:c.3172A>T	ENSP00000398543.1:p.Ser1058Cys
ENST00000469599.6:n.1893A>T
ENST00000492117.1:n.3187A>T
ENST00000541639.5:c.3388A>T	ENSP00000444293.1:p.Ser1130Cys
NM_001146705.1:c.3388A>T	NP_001140177.1:p.Ser1130Cys
NM_001146706.1:c.3124A>T	NP_001140178.1:p.Ser1042Cys
NM_004653.4:c.3295A>T	NP_004644.2:p.Ser1099Cys
XM_005262560.1:c.3160A>T	XP_005262617.1:p.Ser1054Cys
XM_005262561.1:c.3064A>T	XP_005262618.1:p.Ser1022Cys
XM_011531468.1:c.3217A>T	XP_011529770.1:p.Ser1073Cys
XR_244571.2:n.3583A>T
XR_430568.2:n.3917A>T
XM_005262560.3:c.3160A>T	XP_005262617.1:p.Ser1054Cys
XM_005262561.3:c.3064A>T	XP_005262618.1:p.Ser1022Cys
XM_011531468.3:c.3217A>T	XP_011529770.1:p.Ser1073Cys
XM_024452495.1:c.1285A>T	XP_024308263.1:p.Ser429Cys
XM_024452496.1:c.1051A>T	XP_024308264.1:p.Ser351Cys
XR_001756009.2:n.4033A>T
XR_001756010.2:n.4033A>T
XR_001756011.2:n.3898A>T
XR_001756012.2:n.4046A>T
XR_001756013.2:n.3364A>T
XR_002958832.1:n.3465A>T
XR_002958834.1:n.3689A>T
XR_002958835.1:n.3572A>T
XR_002958836.1:n.4255A>T
XR_002958837.1:n.4062A>T
XR_244571.4:n.3582A>T
XR_430568.4:n.3916A>T
NM_001146706.2:c.3124A>T	NP_001140178.1:p.Ser1042Cys
NM_004653.5:c.3295A>T MANE Select	NP_004644.2:p.Ser1099Cys
NM_001146705.2:c.3388A>T	NP_001140177.1:p.Ser1130Cys