Canonical Allele Identifier: CA414844599

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869915G>A (hg19) ; chrY:g.19708029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708029G>A , CM000686.2:g.19708029G>A	GRCh38
NC_000024.9:g.21869915G>A , CM000686.1:g.21869915G>A	GRCh37
NC_000024.8:g.20329303G>A	NCBI36
NG_032920.1:g.41911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3304C>T MANE Select	ENSP00000322408.4:p.Arg1102Cys
ENST00000317961.8:c.3304C>T	ENSP00000322408.4:p.Arg1102Cys
ENST00000382806.6:c.3133C>T	ENSP00000372256.2:p.Arg1045Cys
ENST00000415360.1:c.220C>T	ENSP00000389433.1:p.Arg74Cys
ENST00000440077.5:c.3181C>T	ENSP00000398543.1:p.Arg1061Cys
ENST00000469599.6:n.1902C>T
ENST00000492117.1:n.3196C>T
ENST00000541639.5:c.3397C>T	ENSP00000444293.1:p.Arg1133Cys
NM_001146705.1:c.3397C>T	NP_001140177.1:p.Arg1133Cys
NM_001146706.1:c.3133C>T	NP_001140178.1:p.Arg1045Cys
NM_004653.4:c.3304C>T	NP_004644.2:p.Arg1102Cys
XM_005262560.1:c.3169C>T	XP_005262617.1:p.Arg1057Cys
XM_005262561.1:c.3073C>T	XP_005262618.1:p.Arg1025Cys
XM_011531468.1:c.3226C>T	XP_011529770.1:p.Arg1076Cys
XR_244571.2:n.3592C>T
XR_430568.2:n.3926C>T
XM_005262560.3:c.3169C>T	XP_005262617.1:p.Arg1057Cys
XM_005262561.3:c.3073C>T	XP_005262618.1:p.Arg1025Cys
XM_011531468.3:c.3226C>T	XP_011529770.1:p.Arg1076Cys
XM_024452495.1:c.1294C>T	XP_024308263.1:p.Arg432Cys
XM_024452496.1:c.1060C>T	XP_024308264.1:p.Arg354Cys
XR_001756009.2:n.4042C>T
XR_001756010.2:n.4042C>T
XR_001756011.2:n.3907C>T
XR_001756012.2:n.4055C>T
XR_001756013.2:n.3373C>T
XR_002958832.1:n.3474C>T
XR_002958834.1:n.3698C>T
XR_002958835.1:n.3581C>T
XR_002958836.1:n.4264C>T
XR_002958837.1:n.4071C>T
XR_244571.4:n.3591C>T
XR_430568.4:n.3925C>T
NM_001146706.2:c.3133C>T	NP_001140178.1:p.Arg1045Cys
NM_004653.5:c.3304C>T MANE Select	NP_004644.2:p.Arg1102Cys
NM_001146705.2:c.3397C>T	NP_001140177.1:p.Arg1133Cys