Canonical Allele Identifier: CA414843248

Gene: KDM5D

Linked Data

• dbSNP Id: rs1357058616
• gnomAD v2: Y-21869356-C-T
• MyVariant Identifiers: chrY:g.21869356C>T (hg19) ; chrY:g.19707470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707470C>T , CM000686.2:g.19707470C>T	GRCh38
NC_000024.9:g.21869356C>T , CM000686.1:g.21869356C>T	GRCh37
NC_000024.8:g.20328744C>T	NCBI36
NG_032920.1:g.42470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3676G>A MANE Select	ENSP00000322408.4:p.Asp1226Asn
ENST00000317961.8:c.3676G>A	ENSP00000322408.4:p.Asp1226Asn
ENST00000382806.6:c.3505G>A	ENSP00000372256.2:p.Asp1169Asn
ENST00000415360.1:c.592G>A	ENSP00000389433.1:p.Asp198Asn
ENST00000440077.5:c.3553G>A	ENSP00000398543.1:p.Asp1185Asn
ENST00000469599.6:n.2274G>A
ENST00000492117.1:n.3568G>A
ENST00000541639.5:c.3769G>A	ENSP00000444293.1:p.Asp1257Asn
NM_001146705.1:c.3769G>A	NP_001140177.1:p.Asp1257Asn
NM_001146706.1:c.3505G>A	NP_001140178.1:p.Asp1169Asn
NM_004653.4:c.3676G>A	NP_004644.2:p.Asp1226Asn
XM_005262560.1:c.3541G>A	XP_005262617.1:p.Asp1181Asn
XM_005262561.1:c.3445G>A	XP_005262618.1:p.Asp1149Asn
XM_011531468.1:c.3598G>A	XP_011529770.1:p.Asp1200Asn
XR_244571.2:n.3964G>A
XR_430568.2:n.4298G>A
XM_005262560.3:c.3541G>A	XP_005262617.1:p.Asp1181Asn
XM_005262561.3:c.3445G>A	XP_005262618.1:p.Asp1149Asn
XM_011531468.3:c.3598G>A	XP_011529770.1:p.Asp1200Asn
XM_024452495.1:c.1666G>A	XP_024308263.1:p.Asp556Asn
XM_024452496.1:c.1432G>A	XP_024308264.1:p.Asp478Asn
XR_001756009.2:n.4414G>A
XR_001756010.2:n.4414G>A
XR_001756011.2:n.4279G>A
XR_001756012.2:n.4427G>A
XR_001756013.2:n.3745G>A
XR_002958832.1:n.3846G>A
XR_002958834.1:n.4070G>A
XR_002958835.1:n.3953G>A
XR_002958836.1:n.4636G>A
XR_002958837.1:n.4443G>A
XR_244571.4:n.3963G>A
XR_430568.4:n.4297G>A
NM_001146706.2:c.3505G>A	NP_001140178.1:p.Asp1169Asn
NM_004653.5:c.3676G>A MANE Select	NP_004644.2:p.Asp1226Asn
NM_001146705.2:c.3769G>A	NP_001140177.1:p.Asp1257Asn