Canonical Allele Identifier: CA414844587

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869912T>G (hg19) ; chrY:g.19708026T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708026T>G , CM000686.2:g.19708026T>G	GRCh38
NC_000024.9:g.21869912T>G , CM000686.1:g.21869912T>G	GRCh37
NC_000024.8:g.20329300T>G	NCBI36
NG_032920.1:g.41914A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3307A>C MANE Select	ENSP00000322408.4:p.Ser1103Arg
ENST00000317961.8:c.3307A>C	ENSP00000322408.4:p.Ser1103Arg
ENST00000382806.6:c.3136A>C	ENSP00000372256.2:p.Ser1046Arg
ENST00000415360.1:c.223A>C	ENSP00000389433.1:p.Ser75Arg
ENST00000440077.5:c.3184A>C	ENSP00000398543.1:p.Ser1062Arg
ENST00000469599.6:n.1905A>C
ENST00000492117.1:n.3199A>C
ENST00000541639.5:c.3400A>C	ENSP00000444293.1:p.Ser1134Arg
NM_001146705.1:c.3400A>C	NP_001140177.1:p.Ser1134Arg
NM_001146706.1:c.3136A>C	NP_001140178.1:p.Ser1046Arg
NM_004653.4:c.3307A>C	NP_004644.2:p.Ser1103Arg
XM_005262560.1:c.3172A>C	XP_005262617.1:p.Ser1058Arg
XM_005262561.1:c.3076A>C	XP_005262618.1:p.Ser1026Arg
XM_011531468.1:c.3229A>C	XP_011529770.1:p.Ser1077Arg
XR_244571.2:n.3595A>C
XR_430568.2:n.3929A>C
XM_005262560.3:c.3172A>C	XP_005262617.1:p.Ser1058Arg
XM_005262561.3:c.3076A>C	XP_005262618.1:p.Ser1026Arg
XM_011531468.3:c.3229A>C	XP_011529770.1:p.Ser1077Arg
XM_024452495.1:c.1297A>C	XP_024308263.1:p.Ser433Arg
XM_024452496.1:c.1063A>C	XP_024308264.1:p.Ser355Arg
XR_001756009.2:n.4045A>C
XR_001756010.2:n.4045A>C
XR_001756011.2:n.3910A>C
XR_001756012.2:n.4058A>C
XR_001756013.2:n.3376A>C
XR_002958832.1:n.3477A>C
XR_002958834.1:n.3701A>C
XR_002958835.1:n.3584A>C
XR_002958836.1:n.4267A>C
XR_002958837.1:n.4074A>C
XR_244571.4:n.3594A>C
XR_430568.4:n.3928A>C
NM_001146706.2:c.3136A>C	NP_001140178.1:p.Ser1046Arg
NM_004653.5:c.3307A>C MANE Select	NP_004644.2:p.Ser1103Arg
NM_001146705.2:c.3400A>C	NP_001140177.1:p.Ser1134Arg