Canonical Allele Identifier: CA520516453

Gene: KDM5D

Linked Data

• dbSNP Id: rs1349840148
• gnomAD v2: Y-21869330-A-G
• MyVariant Identifiers: chrY:g.21869330A>G (hg19) ; chrY:g.19707444A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707444A>G , CM000686.2:g.19707444A>G	GRCh38
NC_000024.9:g.21869330A>G , CM000686.1:g.21869330A>G	GRCh37
NC_000024.8:g.20328718A>G	NCBI36
NG_032920.1:g.42496T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3702T>C MANE Select	ENSP00000322408.4:p.Cys1234=
ENST00000317961.8:c.3702T>C	ENSP00000322408.4:p.Cys1234=
ENST00000382806.6:c.3531T>C	ENSP00000372256.2:p.Cys1177=
ENST00000415360.1:c.618T>C	ENSP00000389433.1:p.Cys206=
ENST00000440077.5:c.3579T>C	ENSP00000398543.1:p.Cys1193=
ENST00000469599.6:n.2300T>C
ENST00000492117.1:n.3594T>C
ENST00000541639.5:c.3795T>C	ENSP00000444293.1:p.Cys1265=
NM_001146705.1:c.3795T>C	NP_001140177.1:p.Cys1265=
NM_001146706.1:c.3531T>C	NP_001140178.1:p.Cys1177=
NM_004653.4:c.3702T>C	NP_004644.2:p.Cys1234=
XM_005262560.1:c.3567T>C	XP_005262617.1:p.Cys1189=
XM_005262561.1:c.3471T>C	XP_005262618.1:p.Cys1157=
XM_011531468.1:c.3624T>C	XP_011529770.1:p.Cys1208=
XR_244571.2:n.3990T>C
XR_430568.2:n.4324T>C
XM_005262560.3:c.3567T>C	XP_005262617.1:p.Cys1189=
XM_005262561.3:c.3471T>C	XP_005262618.1:p.Cys1157=
XM_011531468.3:c.3624T>C	XP_011529770.1:p.Cys1208=
XM_024452495.1:c.1692T>C	XP_024308263.1:p.Cys564=
XM_024452496.1:c.1458T>C	XP_024308264.1:p.Cys486=
XR_001756009.2:n.4440T>C
XR_001756010.2:n.4440T>C
XR_001756011.2:n.4305T>C
XR_001756012.2:n.4453T>C
XR_001756013.2:n.3771T>C
XR_002958832.1:n.3872T>C
XR_002958834.1:n.4096T>C
XR_002958835.1:n.3979T>C
XR_002958836.1:n.4662T>C
XR_002958837.1:n.4469T>C
XR_244571.4:n.3989T>C
XR_430568.4:n.4323T>C
NM_001146706.2:c.3531T>C	NP_001140178.1:p.Cys1177=
NM_004653.5:c.3702T>C MANE Select	NP_004644.2:p.Cys1234=
NM_001146705.2:c.3795T>C	NP_001140177.1:p.Cys1265=