Canonical Allele Identifier: CA414843181

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869337G>C (hg19) ; chrY:g.19707451G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707451G>C , CM000686.2:g.19707451G>C	GRCh38
NC_000024.9:g.21869337G>C , CM000686.1:g.21869337G>C	GRCh37
NC_000024.8:g.20328725G>C	NCBI36
NG_032920.1:g.42489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3695C>G MANE Select	ENSP00000322408.4:p.Pro1232Arg
ENST00000317961.8:c.3695C>G	ENSP00000322408.4:p.Pro1232Arg
ENST00000382806.6:c.3524C>G	ENSP00000372256.2:p.Pro1175Arg
ENST00000415360.1:c.611C>G	ENSP00000389433.1:p.Pro204Arg
ENST00000440077.5:c.3572C>G	ENSP00000398543.1:p.Pro1191Arg
ENST00000469599.6:n.2293C>G
ENST00000492117.1:n.3587C>G
ENST00000541639.5:c.3788C>G	ENSP00000444293.1:p.Pro1263Arg
NM_001146705.1:c.3788C>G	NP_001140177.1:p.Pro1263Arg
NM_001146706.1:c.3524C>G	NP_001140178.1:p.Pro1175Arg
NM_004653.4:c.3695C>G	NP_004644.2:p.Pro1232Arg
XM_005262560.1:c.3560C>G	XP_005262617.1:p.Pro1187Arg
XM_005262561.1:c.3464C>G	XP_005262618.1:p.Pro1155Arg
XM_011531468.1:c.3617C>G	XP_011529770.1:p.Pro1206Arg
XR_244571.2:n.3983C>G
XR_430568.2:n.4317C>G
XM_005262560.3:c.3560C>G	XP_005262617.1:p.Pro1187Arg
XM_005262561.3:c.3464C>G	XP_005262618.1:p.Pro1155Arg
XM_011531468.3:c.3617C>G	XP_011529770.1:p.Pro1206Arg
XM_024452495.1:c.1685C>G	XP_024308263.1:p.Pro562Arg
XM_024452496.1:c.1451C>G	XP_024308264.1:p.Pro484Arg
XR_001756009.2:n.4433C>G
XR_001756010.2:n.4433C>G
XR_001756011.2:n.4298C>G
XR_001756012.2:n.4446C>G
XR_001756013.2:n.3764C>G
XR_002958832.1:n.3865C>G
XR_002958834.1:n.4089C>G
XR_002958835.1:n.3972C>G
XR_002958836.1:n.4655C>G
XR_002958837.1:n.4462C>G
XR_244571.4:n.3982C>G
XR_430568.4:n.4316C>G
NM_001146706.2:c.3524C>G	NP_001140178.1:p.Pro1175Arg
NM_004653.5:c.3695C>G MANE Select	NP_004644.2:p.Pro1232Arg
NM_001146705.2:c.3788C>G	NP_001140177.1:p.Pro1263Arg