Canonical Allele Identifier: CA10574738

Gene: KDM5D

Linked Data

• dbSNP Id: rs373978184
• ExAC: Y:21869319 C / T
• gnomAD v2: Y-21869319-C-T
• gnomAD v3: Y-19707433-C-T
• gnomAD v4: Y-19707433-C-T
• MyVariant Identifiers: chrY:g.21869319C>T (hg19) ; chrY:g.19707433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707433C>T , CM000686.2:g.19707433C>T	GRCh38
NC_000024.9:g.21869319C>T , CM000686.1:g.21869319C>T	GRCh37
NC_000024.8:g.20328707C>T	NCBI36
NG_032920.1:g.42507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3713G>A MANE Select	ENSP00000322408.4:p.Arg1238Gln
ENST00000317961.8:c.3713G>A	ENSP00000322408.4:p.Arg1238Gln
ENST00000382806.6:c.3542G>A	ENSP00000372256.2:p.Arg1181Gln
ENST00000415360.1:c.629G>A	ENSP00000389433.1:p.Arg210Gln
ENST00000440077.5:c.3590G>A	ENSP00000398543.1:p.Arg1197Gln
ENST00000469599.6:n.2311G>A
ENST00000492117.1:n.3605G>A
ENST00000541639.5:c.3806G>A	ENSP00000444293.1:p.Arg1269Gln
NM_001146705.1:c.3806G>A	NP_001140177.1:p.Arg1269Gln
NM_001146706.1:c.3542G>A	NP_001140178.1:p.Arg1181Gln
NM_004653.4:c.3713G>A	NP_004644.2:p.Arg1238Gln
XM_005262560.1:c.3578G>A	XP_005262617.1:p.Arg1193Gln
XM_005262561.1:c.3482G>A	XP_005262618.1:p.Arg1161Gln
XM_011531468.1:c.3635G>A	XP_011529770.1:p.Arg1212Gln
XR_244571.2:n.4001G>A
XR_430568.2:n.4335G>A
XM_005262560.3:c.3578G>A	XP_005262617.1:p.Arg1193Gln
XM_005262561.3:c.3482G>A	XP_005262618.1:p.Arg1161Gln
XM_011531468.3:c.3635G>A	XP_011529770.1:p.Arg1212Gln
XM_024452495.1:c.1703G>A	XP_024308263.1:p.Arg568Gln
XM_024452496.1:c.1469G>A	XP_024308264.1:p.Arg490Gln
XR_001756009.2:n.4451G>A
XR_001756010.2:n.4451G>A
XR_001756011.2:n.4316G>A
XR_001756012.2:n.4464G>A
XR_001756013.2:n.3782G>A
XR_002958832.1:n.3883G>A
XR_002958834.1:n.4107G>A
XR_002958835.1:n.3990G>A
XR_002958836.1:n.4673G>A
XR_002958837.1:n.4480G>A
XR_244571.4:n.4000G>A
XR_430568.4:n.4334G>A
NM_001146706.2:c.3542G>A	NP_001140178.1:p.Arg1181Gln
NM_004653.5:c.3713G>A MANE Select	NP_004644.2:p.Arg1238Gln
NM_001146705.2:c.3806G>A	NP_001140177.1:p.Arg1269Gln