Canonical Allele Identifier: CA414843117

Gene: KDM5D

Linked Data

• dbSNP Id: rs2045252765
• gnomAD v3: Y-19707430-C-T
• gnomAD v4: Y-19707430-C-T
• MyVariant Identifiers: chrY:g.21869316C>T (hg19) ; chrY:g.19707430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707430C>T , CM000686.2:g.19707430C>T	GRCh38
NC_000024.9:g.21869316C>T , CM000686.1:g.21869316C>T	GRCh37
NC_000024.8:g.20328704C>T	NCBI36
NG_032920.1:g.42510G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3716G>A MANE Select	ENSP00000322408.4:p.Arg1239Gln
ENST00000317961.8:c.3716G>A	ENSP00000322408.4:p.Arg1239Gln
ENST00000382806.6:c.3545G>A	ENSP00000372256.2:p.Arg1182Gln
ENST00000415360.1:c.632G>A	ENSP00000389433.1:p.Arg211Gln
ENST00000440077.5:c.3593G>A	ENSP00000398543.1:p.Arg1198Gln
ENST00000469599.6:n.2314G>A
ENST00000492117.1:n.3608G>A
ENST00000541639.5:c.3809G>A	ENSP00000444293.1:p.Arg1270Gln
NM_001146705.1:c.3809G>A	NP_001140177.1:p.Arg1270Gln
NM_001146706.1:c.3545G>A	NP_001140178.1:p.Arg1182Gln
NM_004653.4:c.3716G>A	NP_004644.2:p.Arg1239Gln
XM_005262560.1:c.3581G>A	XP_005262617.1:p.Arg1194Gln
XM_005262561.1:c.3485G>A	XP_005262618.1:p.Arg1162Gln
XM_011531468.1:c.3638G>A	XP_011529770.1:p.Arg1213Gln
XR_244571.2:n.4004G>A
XR_430568.2:n.4338G>A
XM_005262560.3:c.3581G>A	XP_005262617.1:p.Arg1194Gln
XM_005262561.3:c.3485G>A	XP_005262618.1:p.Arg1162Gln
XM_011531468.3:c.3638G>A	XP_011529770.1:p.Arg1213Gln
XM_024452495.1:c.1706G>A	XP_024308263.1:p.Arg569Gln
XM_024452496.1:c.1472G>A	XP_024308264.1:p.Arg491Gln
XR_001756009.2:n.4454G>A
XR_001756010.2:n.4454G>A
XR_001756011.2:n.4319G>A
XR_001756012.2:n.4467G>A
XR_001756013.2:n.3785G>A
XR_002958832.1:n.3886G>A
XR_002958834.1:n.4110G>A
XR_002958835.1:n.3993G>A
XR_002958836.1:n.4676G>A
XR_002958837.1:n.4483G>A
XR_244571.4:n.4003G>A
XR_430568.4:n.4337G>A
NM_001146706.2:c.3545G>A	NP_001140178.1:p.Arg1182Gln
NM_004653.5:c.3716G>A MANE Select	NP_004644.2:p.Arg1239Gln
NM_001146705.2:c.3809G>A	NP_001140177.1:p.Arg1270Gln