Canonical Allele Identifier: CA10574760

Gene: KDM5D

Linked Data

• dbSNP Id: rs769345125
• ExAC: Y:21869875 C / T
• gnomAD v2: Y-21869875-C-T
• gnomAD v3: Y-19707989-C-T
• gnomAD v4: Y-19707989-C-T
• MyVariant Identifiers: chrY:g.21869875C>T (hg19) ; chrY:g.19707989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707989C>T , CM000686.2:g.19707989C>T	GRCh38
NC_000024.9:g.21869875C>T , CM000686.1:g.21869875C>T	GRCh37
NC_000024.8:g.20329263C>T	NCBI36
NG_032920.1:g.41951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3344G>A MANE Select	ENSP00000322408.4:p.Cys1115Tyr
ENST00000317961.8:c.3344G>A	ENSP00000322408.4:p.Cys1115Tyr
ENST00000382806.6:c.3173G>A	ENSP00000372256.2:p.Cys1058Tyr
ENST00000415360.1:c.260G>A	ENSP00000389433.1:p.Cys87Tyr
ENST00000440077.5:c.3221G>A	ENSP00000398543.1:p.Cys1074Tyr
ENST00000469599.6:n.1942G>A
ENST00000492117.1:n.3236G>A
ENST00000541639.5:c.3437G>A	ENSP00000444293.1:p.Cys1146Tyr
NM_001146705.1:c.3437G>A	NP_001140177.1:p.Cys1146Tyr
NM_001146706.1:c.3173G>A	NP_001140178.1:p.Cys1058Tyr
NM_004653.4:c.3344G>A	NP_004644.2:p.Cys1115Tyr
XM_005262560.1:c.3209G>A	XP_005262617.1:p.Cys1070Tyr
XM_005262561.1:c.3113G>A	XP_005262618.1:p.Cys1038Tyr
XM_011531468.1:c.3266G>A	XP_011529770.1:p.Cys1089Tyr
XR_244571.2:n.3632G>A
XR_430568.2:n.3966G>A
XM_005262560.3:c.3209G>A	XP_005262617.1:p.Cys1070Tyr
XM_005262561.3:c.3113G>A	XP_005262618.1:p.Cys1038Tyr
XM_011531468.3:c.3266G>A	XP_011529770.1:p.Cys1089Tyr
XM_024452495.1:c.1334G>A	XP_024308263.1:p.Cys445Tyr
XM_024452496.1:c.1100G>A	XP_024308264.1:p.Cys367Tyr
XR_001756009.2:n.4082G>A
XR_001756010.2:n.4082G>A
XR_001756011.2:n.3947G>A
XR_001756012.2:n.4095G>A
XR_001756013.2:n.3413G>A
XR_002958832.1:n.3514G>A
XR_002958834.1:n.3738G>A
XR_002958835.1:n.3621G>A
XR_002958836.1:n.4304G>A
XR_002958837.1:n.4111G>A
XR_244571.4:n.3631G>A
XR_430568.4:n.3965G>A
NM_001146706.2:c.3173G>A	NP_001140178.1:p.Cys1058Tyr
NM_004653.5:c.3344G>A MANE Select	NP_004644.2:p.Cys1115Tyr
NM_001146705.2:c.3437G>A	NP_001140177.1:p.Cys1146Tyr