Canonical Allele Identifier: CA414843489

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869424A>G (hg19) ; chrY:g.19707538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707538A>G , CM000686.2:g.19707538A>G	GRCh38
NC_000024.9:g.21869424A>G , CM000686.1:g.21869424A>G	GRCh37
NC_000024.8:g.20328812A>G	NCBI36
NG_032920.1:g.42402T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3608T>C MANE Select	ENSP00000322408.4:p.Val1203Ala
ENST00000317961.8:c.3608T>C	ENSP00000322408.4:p.Val1203Ala
ENST00000382806.6:c.3437T>C	ENSP00000372256.2:p.Val1146Ala
ENST00000415360.1:c.524T>C	ENSP00000389433.1:p.Val175Ala
ENST00000440077.5:c.3485T>C	ENSP00000398543.1:p.Val1162Ala
ENST00000469599.6:n.2206T>C
ENST00000492117.1:n.3500T>C
ENST00000541639.5:c.3701T>C	ENSP00000444293.1:p.Val1234Ala
NM_001146705.1:c.3701T>C	NP_001140177.1:p.Val1234Ala
NM_001146706.1:c.3437T>C	NP_001140178.1:p.Val1146Ala
NM_004653.4:c.3608T>C	NP_004644.2:p.Val1203Ala
XM_005262560.1:c.3473T>C	XP_005262617.1:p.Val1158Ala
XM_005262561.1:c.3377T>C	XP_005262618.1:p.Val1126Ala
XM_011531468.1:c.3530T>C	XP_011529770.1:p.Val1177Ala
XR_244571.2:n.3896T>C
XR_430568.2:n.4230T>C
XM_005262560.3:c.3473T>C	XP_005262617.1:p.Val1158Ala
XM_005262561.3:c.3377T>C	XP_005262618.1:p.Val1126Ala
XM_011531468.3:c.3530T>C	XP_011529770.1:p.Val1177Ala
XM_024452495.1:c.1598T>C	XP_024308263.1:p.Val533Ala
XM_024452496.1:c.1364T>C	XP_024308264.1:p.Val455Ala
XR_001756009.2:n.4346T>C
XR_001756010.2:n.4346T>C
XR_001756011.2:n.4211T>C
XR_001756012.2:n.4359T>C
XR_001756013.2:n.3677T>C
XR_002958832.1:n.3778T>C
XR_002958834.1:n.4002T>C
XR_002958835.1:n.3885T>C
XR_002958836.1:n.4568T>C
XR_002958837.1:n.4375T>C
XR_244571.4:n.3895T>C
XR_430568.4:n.4229T>C
NM_001146706.2:c.3437T>C	NP_001140178.1:p.Val1146Ala
NM_004653.5:c.3608T>C MANE Select	NP_004644.2:p.Val1203Ala
NM_001146705.2:c.3701T>C	NP_001140177.1:p.Val1234Ala