Canonical Allele Identifier: CA10574967

Gene: KDM5D

Linked Data

• dbSNP Id: rs765333052
• ExAC: Y:21893968 A / G
• gnomAD v2: Y-21893968-A-G
• MyVariant Identifiers: chrY:g.21893968A>G (hg19) ; chrY:g.19732082A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732082A>G , CM000686.2:g.19732082A>G	GRCh38
NC_000024.9:g.21893968A>G , CM000686.1:g.21893968A>G	GRCh37
NC_000024.8:g.20353356A>G	NCBI36
NG_032920.1:g.17858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.1176T>C MANE Select	ENSP00000322408.4:p.Asp392=
ENST00000317961.8:c.1176T>C	ENSP00000322408.4:p.Asp392=
ENST00000382806.6:c.1005T>C	ENSP00000372256.2:p.Asp335=
ENST00000440077.5:c.1053T>C	ENSP00000398543.1:p.Asp351=
ENST00000447300.1:c.1041T>C	ENSP00000416377.1:p.Asp347=
ENST00000541639.5:c.1176T>C	ENSP00000444293.1:p.Asp392=
NM_001146705.1:c.1176T>C	NP_001140177.1:p.Asp392=
NM_001146706.1:c.1005T>C	NP_001140178.1:p.Asp335=
NM_004653.4:c.1176T>C	NP_004644.2:p.Asp392=
XM_005262560.1:c.1041T>C	XP_005262617.1:p.Asp347=
XM_005262561.1:c.1176T>C	XP_005262618.1:p.Asp392=
XM_005262562.2:c.1176T>C	XP_005262619.1:p.Asp392=
XM_011531468.1:c.1176T>C	XP_011529770.1:p.Asp392=
XR_244571.2:n.1464T>C
XR_430568.2:n.1464T>C
XR_938609.1:n.1464T>C
XR_938610.1:n.1464T>C
XM_005262560.3:c.1041T>C	XP_005262617.1:p.Asp347=
XM_005262561.3:c.1176T>C	XP_005262618.1:p.Asp392=
XM_011531468.3:c.1176T>C	XP_011529770.1:p.Asp392=
XM_024452495.1:c.-942T>C	XP_024308263.1:n.-942T>C
XR_001756009.2:n.1463T>C
XR_001756010.2:n.1463T>C
XR_001756011.2:n.1328T>C
XR_001756012.2:n.1463T>C
XR_001756013.2:n.1463T>C
XR_002958832.1:n.1463T>C
XR_002958833.1:n.1463T>C
XR_002958834.1:n.1463T>C
XR_002958835.1:n.1463T>C
XR_002958836.1:n.1463T>C
XR_002958837.1:n.1463T>C
XR_244571.4:n.1463T>C
XR_430568.4:n.1463T>C
NM_001146706.2:c.1005T>C	NP_001140178.1:p.Asp335=
NM_004653.5:c.1176T>C MANE Select	NP_004644.2:p.Asp392=
NM_001146705.2:c.1176T>C	NP_001140177.1:p.Asp392=