Canonical Allele Identifier: CA414843734

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869485C>G (hg19) ; chrY:g.19707599C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707599C>G , CM000686.2:g.19707599C>G	GRCh38
NC_000024.9:g.21869485C>G , CM000686.1:g.21869485C>G	GRCh37
NC_000024.8:g.20328873C>G	NCBI36
NG_032920.1:g.42341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3547G>C MANE Select	ENSP00000322408.4:p.Gly1183Arg
ENST00000317961.8:c.3547G>C	ENSP00000322408.4:p.Gly1183Arg
ENST00000382806.6:c.3376G>C	ENSP00000372256.2:p.Gly1126Arg
ENST00000415360.1:c.463G>C	ENSP00000389433.1:p.Gly155Arg
ENST00000440077.5:c.3424G>C	ENSP00000398543.1:p.Gly1142Arg
ENST00000469599.6:n.2145G>C
ENST00000492117.1:n.3439G>C
ENST00000541639.5:c.3640G>C	ENSP00000444293.1:p.Gly1214Arg
NM_001146705.1:c.3640G>C	NP_001140177.1:p.Gly1214Arg
NM_001146706.1:c.3376G>C	NP_001140178.1:p.Gly1126Arg
NM_004653.4:c.3547G>C	NP_004644.2:p.Gly1183Arg
XM_005262560.1:c.3412G>C	XP_005262617.1:p.Gly1138Arg
XM_005262561.1:c.3316G>C	XP_005262618.1:p.Gly1106Arg
XM_011531468.1:c.3469G>C	XP_011529770.1:p.Gly1157Arg
XR_244571.2:n.3835G>C
XR_430568.2:n.4169G>C
XM_005262560.3:c.3412G>C	XP_005262617.1:p.Gly1138Arg
XM_005262561.3:c.3316G>C	XP_005262618.1:p.Gly1106Arg
XM_011531468.3:c.3469G>C	XP_011529770.1:p.Gly1157Arg
XM_024452495.1:c.1537G>C	XP_024308263.1:p.Gly513Arg
XM_024452496.1:c.1303G>C	XP_024308264.1:p.Gly435Arg
XR_001756009.2:n.4285G>C
XR_001756010.2:n.4285G>C
XR_001756011.2:n.4150G>C
XR_001756012.2:n.4298G>C
XR_001756013.2:n.3616G>C
XR_002958832.1:n.3717G>C
XR_002958834.1:n.3941G>C
XR_002958835.1:n.3824G>C
XR_002958836.1:n.4507G>C
XR_002958837.1:n.4314G>C
XR_244571.4:n.3834G>C
XR_430568.4:n.4168G>C
NM_001146706.2:c.3376G>C	NP_001140178.1:p.Gly1126Arg
NM_004653.5:c.3547G>C MANE Select	NP_004644.2:p.Gly1183Arg
NM_001146705.2:c.3640G>C	NP_001140177.1:p.Gly1214Arg