Canonical Allele Identifier: CA414844057

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869581G>C (hg19) ; chrY:g.19707695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707695G>C , CM000686.2:g.19707695G>C	GRCh38
NC_000024.9:g.21869581G>C , CM000686.1:g.21869581G>C	GRCh37
NC_000024.8:g.20328969G>C	NCBI36
NG_032920.1:g.42245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3451C>G MANE Select	ENSP00000322408.4:p.Leu1151Val
ENST00000317961.8:c.3451C>G	ENSP00000322408.4:p.Leu1151Val
ENST00000382806.6:c.3280C>G	ENSP00000372256.2:p.Leu1094Val
ENST00000415360.1:c.367C>G	ENSP00000389433.1:p.Leu123Val
ENST00000440077.5:c.3328C>G	ENSP00000398543.1:p.Leu1110Val
ENST00000469599.6:n.2049C>G
ENST00000492117.1:n.3343C>G
ENST00000541639.5:c.3544C>G	ENSP00000444293.1:p.Leu1182Val
NM_001146705.1:c.3544C>G	NP_001140177.1:p.Leu1182Val
NM_001146706.1:c.3280C>G	NP_001140178.1:p.Leu1094Val
NM_004653.4:c.3451C>G	NP_004644.2:p.Leu1151Val
XM_005262560.1:c.3316C>G	XP_005262617.1:p.Leu1106Val
XM_005262561.1:c.3220C>G	XP_005262618.1:p.Leu1074Val
XM_011531468.1:c.3373C>G	XP_011529770.1:p.Leu1125Val
XR_244571.2:n.3739C>G
XR_430568.2:n.4073C>G
XM_005262560.3:c.3316C>G	XP_005262617.1:p.Leu1106Val
XM_005262561.3:c.3220C>G	XP_005262618.1:p.Leu1074Val
XM_011531468.3:c.3373C>G	XP_011529770.1:p.Leu1125Val
XM_024452495.1:c.1441C>G	XP_024308263.1:p.Leu481Val
XM_024452496.1:c.1207C>G	XP_024308264.1:p.Leu403Val
XR_001756009.2:n.4189C>G
XR_001756010.2:n.4189C>G
XR_001756011.2:n.4054C>G
XR_001756012.2:n.4202C>G
XR_001756013.2:n.3520C>G
XR_002958832.1:n.3621C>G
XR_002958834.1:n.3845C>G
XR_002958835.1:n.3728C>G
XR_002958836.1:n.4411C>G
XR_002958837.1:n.4218C>G
XR_244571.4:n.3738C>G
XR_430568.4:n.4072C>G
NM_001146706.2:c.3280C>G	NP_001140178.1:p.Leu1094Val
NM_004653.5:c.3451C>G MANE Select	NP_004644.2:p.Leu1151Val
NM_001146705.2:c.3544C>G	NP_001140177.1:p.Leu1182Val