Canonical Allele Identifier: CA414843313

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869373A>C (hg19) ; chrY:g.19707487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707487A>C , CM000686.2:g.19707487A>C	GRCh38
NC_000024.9:g.21869373A>C , CM000686.1:g.21869373A>C	GRCh37
NC_000024.8:g.20328761A>C	NCBI36
NG_032920.1:g.42453T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3659T>G MANE Select	ENSP00000322408.4:p.Leu1220Arg
ENST00000317961.8:c.3659T>G	ENSP00000322408.4:p.Leu1220Arg
ENST00000382806.6:c.3488T>G	ENSP00000372256.2:p.Leu1163Arg
ENST00000415360.1:c.575T>G	ENSP00000389433.1:p.Leu192Arg
ENST00000440077.5:c.3536T>G	ENSP00000398543.1:p.Leu1179Arg
ENST00000469599.6:n.2257T>G
ENST00000492117.1:n.3551T>G
ENST00000541639.5:c.3752T>G	ENSP00000444293.1:p.Leu1251Arg
NM_001146705.1:c.3752T>G	NP_001140177.1:p.Leu1251Arg
NM_001146706.1:c.3488T>G	NP_001140178.1:p.Leu1163Arg
NM_004653.4:c.3659T>G	NP_004644.2:p.Leu1220Arg
XM_005262560.1:c.3524T>G	XP_005262617.1:p.Leu1175Arg
XM_005262561.1:c.3428T>G	XP_005262618.1:p.Leu1143Arg
XM_011531468.1:c.3581T>G	XP_011529770.1:p.Leu1194Arg
XR_244571.2:n.3947T>G
XR_430568.2:n.4281T>G
XM_005262560.3:c.3524T>G	XP_005262617.1:p.Leu1175Arg
XM_005262561.3:c.3428T>G	XP_005262618.1:p.Leu1143Arg
XM_011531468.3:c.3581T>G	XP_011529770.1:p.Leu1194Arg
XM_024452495.1:c.1649T>G	XP_024308263.1:p.Leu550Arg
XM_024452496.1:c.1415T>G	XP_024308264.1:p.Leu472Arg
XR_001756009.2:n.4397T>G
XR_001756010.2:n.4397T>G
XR_001756011.2:n.4262T>G
XR_001756012.2:n.4410T>G
XR_001756013.2:n.3728T>G
XR_002958832.1:n.3829T>G
XR_002958834.1:n.4053T>G
XR_002958835.1:n.3936T>G
XR_002958836.1:n.4619T>G
XR_002958837.1:n.4426T>G
XR_244571.4:n.3946T>G
XR_430568.4:n.4280T>G
NM_001146706.2:c.3488T>G	NP_001140178.1:p.Leu1163Arg
NM_004653.5:c.3659T>G MANE Select	NP_004644.2:p.Leu1220Arg
NM_001146705.2:c.3752T>G	NP_001140177.1:p.Leu1251Arg