Canonical Allele Identifier: CA414843448

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869412A>C (hg19) ; chrY:g.19707526A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707526A>C , CM000686.2:g.19707526A>C	GRCh38
NC_000024.9:g.21869412A>C , CM000686.1:g.21869412A>C	GRCh37
NC_000024.8:g.20328800A>C	NCBI36
NG_032920.1:g.42414T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3620T>G MANE Select	ENSP00000322408.4:p.Leu1207Arg
ENST00000317961.8:c.3620T>G	ENSP00000322408.4:p.Leu1207Arg
ENST00000382806.6:c.3449T>G	ENSP00000372256.2:p.Leu1150Arg
ENST00000415360.1:c.536T>G	ENSP00000389433.1:p.Leu179Arg
ENST00000440077.5:c.3497T>G	ENSP00000398543.1:p.Leu1166Arg
ENST00000469599.6:n.2218T>G
ENST00000492117.1:n.3512T>G
ENST00000541639.5:c.3713T>G	ENSP00000444293.1:p.Leu1238Arg
NM_001146705.1:c.3713T>G	NP_001140177.1:p.Leu1238Arg
NM_001146706.1:c.3449T>G	NP_001140178.1:p.Leu1150Arg
NM_004653.4:c.3620T>G	NP_004644.2:p.Leu1207Arg
XM_005262560.1:c.3485T>G	XP_005262617.1:p.Leu1162Arg
XM_005262561.1:c.3389T>G	XP_005262618.1:p.Leu1130Arg
XM_011531468.1:c.3542T>G	XP_011529770.1:p.Leu1181Arg
XR_244571.2:n.3908T>G
XR_430568.2:n.4242T>G
XM_005262560.3:c.3485T>G	XP_005262617.1:p.Leu1162Arg
XM_005262561.3:c.3389T>G	XP_005262618.1:p.Leu1130Arg
XM_011531468.3:c.3542T>G	XP_011529770.1:p.Leu1181Arg
XM_024452495.1:c.1610T>G	XP_024308263.1:p.Leu537Arg
XM_024452496.1:c.1376T>G	XP_024308264.1:p.Leu459Arg
XR_001756009.2:n.4358T>G
XR_001756010.2:n.4358T>G
XR_001756011.2:n.4223T>G
XR_001756012.2:n.4371T>G
XR_001756013.2:n.3689T>G
XR_002958832.1:n.3790T>G
XR_002958834.1:n.4014T>G
XR_002958835.1:n.3897T>G
XR_002958836.1:n.4580T>G
XR_002958837.1:n.4387T>G
XR_244571.4:n.3907T>G
XR_430568.4:n.4241T>G
NM_001146706.2:c.3449T>G	NP_001140178.1:p.Leu1150Arg
NM_004653.5:c.3620T>G MANE Select	NP_004644.2:p.Leu1207Arg
NM_001146705.2:c.3713T>G	NP_001140177.1:p.Leu1238Arg