Canonical Allele Identifier: CA414844589

Gene: KDM5D

Linked Data

• gnomAD v3: Y-19708028-C-A
• gnomAD v4: Y-19708028-C-A
• MyVariant Identifiers: chrY:g.21869914C>A (hg19) ; chrY:g.19708028C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708028C>A , CM000686.2:g.19708028C>A	GRCh38
NC_000024.9:g.21869914C>A , CM000686.1:g.21869914C>A	GRCh37
NC_000024.8:g.20329302C>A	NCBI36
NG_032920.1:g.41912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3305G>T MANE Select	ENSP00000322408.4:p.Arg1102Leu
ENST00000317961.8:c.3305G>T	ENSP00000322408.4:p.Arg1102Leu
ENST00000382806.6:c.3134G>T	ENSP00000372256.2:p.Arg1045Leu
ENST00000415360.1:c.221G>T	ENSP00000389433.1:p.Arg74Leu
ENST00000440077.5:c.3182G>T	ENSP00000398543.1:p.Arg1061Leu
ENST00000469599.6:n.1903G>T
ENST00000492117.1:n.3197G>T
ENST00000541639.5:c.3398G>T	ENSP00000444293.1:p.Arg1133Leu
NM_001146705.1:c.3398G>T	NP_001140177.1:p.Arg1133Leu
NM_001146706.1:c.3134G>T	NP_001140178.1:p.Arg1045Leu
NM_004653.4:c.3305G>T	NP_004644.2:p.Arg1102Leu
XM_005262560.1:c.3170G>T	XP_005262617.1:p.Arg1057Leu
XM_005262561.1:c.3074G>T	XP_005262618.1:p.Arg1025Leu
XM_011531468.1:c.3227G>T	XP_011529770.1:p.Arg1076Leu
XR_244571.2:n.3593G>T
XR_430568.2:n.3927G>T
XM_005262560.3:c.3170G>T	XP_005262617.1:p.Arg1057Leu
XM_005262561.3:c.3074G>T	XP_005262618.1:p.Arg1025Leu
XM_011531468.3:c.3227G>T	XP_011529770.1:p.Arg1076Leu
XM_024452495.1:c.1295G>T	XP_024308263.1:p.Arg432Leu
XM_024452496.1:c.1061G>T	XP_024308264.1:p.Arg354Leu
XR_001756009.2:n.4043G>T
XR_001756010.2:n.4043G>T
XR_001756011.2:n.3908G>T
XR_001756012.2:n.4056G>T
XR_001756013.2:n.3374G>T
XR_002958832.1:n.3475G>T
XR_002958834.1:n.3699G>T
XR_002958835.1:n.3582G>T
XR_002958836.1:n.4265G>T
XR_002958837.1:n.4072G>T
XR_244571.4:n.3592G>T
XR_430568.4:n.3926G>T
NM_001146706.2:c.3134G>T	NP_001140178.1:p.Arg1045Leu
NM_004653.5:c.3305G>T MANE Select	NP_004644.2:p.Arg1102Leu
NM_001146705.2:c.3398G>T	NP_001140177.1:p.Arg1133Leu