Canonical Allele Identifier: CA414843105

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869313G>C (hg19) ; chrY:g.19707427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707427G>C , CM000686.2:g.19707427G>C	GRCh38
NC_000024.9:g.21869313G>C , CM000686.1:g.21869313G>C	GRCh37
NC_000024.8:g.20328701G>C	NCBI36
NG_032920.1:g.42513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3719C>G MANE Select	ENSP00000322408.4:p.Pro1240Arg
ENST00000317961.8:c.3719C>G	ENSP00000322408.4:p.Pro1240Arg
ENST00000382806.6:c.3548C>G	ENSP00000372256.2:p.Pro1183Arg
ENST00000415360.1:c.635C>G	ENSP00000389433.1:p.Pro212Arg
ENST00000440077.5:c.3596C>G	ENSP00000398543.1:p.Pro1199Arg
ENST00000469599.6:n.2317C>G
ENST00000492117.1:n.3611C>G
ENST00000541639.5:c.3812C>G	ENSP00000444293.1:p.Pro1271Arg
NM_001146705.1:c.3812C>G	NP_001140177.1:p.Pro1271Arg
NM_001146706.1:c.3548C>G	NP_001140178.1:p.Pro1183Arg
NM_004653.4:c.3719C>G	NP_004644.2:p.Pro1240Arg
XM_005262560.1:c.3584C>G	XP_005262617.1:p.Pro1195Arg
XM_005262561.1:c.3488C>G	XP_005262618.1:p.Pro1163Arg
XM_011531468.1:c.3641C>G	XP_011529770.1:p.Pro1214Arg
XR_244571.2:n.4007C>G
XR_430568.2:n.4341C>G
XM_005262560.3:c.3584C>G	XP_005262617.1:p.Pro1195Arg
XM_005262561.3:c.3488C>G	XP_005262618.1:p.Pro1163Arg
XM_011531468.3:c.3641C>G	XP_011529770.1:p.Pro1214Arg
XM_024452495.1:c.1709C>G	XP_024308263.1:p.Pro570Arg
XM_024452496.1:c.1475C>G	XP_024308264.1:p.Pro492Arg
XR_001756009.2:n.4457C>G
XR_001756010.2:n.4457C>G
XR_001756011.2:n.4322C>G
XR_001756012.2:n.4470C>G
XR_001756013.2:n.3788C>G
XR_002958832.1:n.3889C>G
XR_002958834.1:n.4113C>G
XR_002958835.1:n.3996C>G
XR_002958836.1:n.4679C>G
XR_002958837.1:n.4486C>G
XR_244571.4:n.4006C>G
XR_430568.4:n.4340C>G
NM_001146706.2:c.3548C>G	NP_001140178.1:p.Pro1183Arg
NM_004653.5:c.3719C>G MANE Select	NP_004644.2:p.Pro1240Arg
NM_001146705.2:c.3812C>G	NP_001140177.1:p.Pro1271Arg