Canonical Allele Identifier: CA414843244

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869356C>A (hg19) ; chrY:g.19707470C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3676G>T MANE Select	ENSP00000322408.4:p.Asp1226Tyr
ENST00000317961.8:c.3676G>T	ENSP00000322408.4:p.Asp1226Tyr
ENST00000382806.6:c.3505G>T	ENSP00000372256.2:p.Asp1169Tyr
ENST00000415360.1:c.592G>T	ENSP00000389433.1:p.Asp198Tyr
ENST00000440077.5:c.3553G>T	ENSP00000398543.1:p.Asp1185Tyr
ENST00000469599.6:n.2274G>T
ENST00000492117.1:n.3568G>T
ENST00000541639.5:c.3769G>T	ENSP00000444293.1:p.Asp1257Tyr
NM_001146705.1:c.3769G>T	NP_001140177.1:p.Asp1257Tyr
NM_001146706.1:c.3505G>T	NP_001140178.1:p.Asp1169Tyr
NM_004653.4:c.3676G>T	NP_004644.2:p.Asp1226Tyr
XM_005262560.1:c.3541G>T	XP_005262617.1:p.Asp1181Tyr
XM_005262561.1:c.3445G>T	XP_005262618.1:p.Asp1149Tyr
XM_011531468.1:c.3598G>T	XP_011529770.1:p.Asp1200Tyr
XR_244571.2:n.3964G>T
XR_430568.2:n.4298G>T
XM_005262560.3:c.3541G>T	XP_005262617.1:p.Asp1181Tyr
XM_005262561.3:c.3445G>T	XP_005262618.1:p.Asp1149Tyr
XM_011531468.3:c.3598G>T	XP_011529770.1:p.Asp1200Tyr
XM_024452495.1:c.1666G>T	XP_024308263.1:p.Asp556Tyr
XM_024452496.1:c.1432G>T	XP_024308264.1:p.Asp478Tyr
XR_001756009.2:n.4414G>T
XR_001756010.2:n.4414G>T
XR_001756011.2:n.4279G>T
XR_001756012.2:n.4427G>T
XR_001756013.2:n.3745G>T
XR_002958832.1:n.3846G>T
XR_002958834.1:n.4070G>T
XR_002958835.1:n.3953G>T
XR_002958836.1:n.4636G>T
XR_002958837.1:n.4443G>T
XR_244571.4:n.3963G>T
XR_430568.4:n.4297G>T
NM_001146706.2:c.3505G>T	NP_001140178.1:p.Asp1169Tyr
NM_004653.5:c.3676G>T MANE Select	NP_004644.2:p.Asp1226Tyr
NM_001146705.2:c.3769G>T	NP_001140177.1:p.Asp1257Tyr