Canonical Allele Identifier: CA337439881

Gene: KDM5D

Linked Data

• dbSNP Id: rs963453320
• gnomAD v2: Y-21869858-C-T
• MyVariant Identifiers: chrY:g.21869858C>T (hg19) ; chrY:g.19707972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707972C>T , CM000686.2:g.19707972C>T	GRCh38
NC_000024.9:g.21869858C>T , CM000686.1:g.21869858C>T	GRCh37
NC_000024.8:g.20329246C>T	NCBI36
NG_032920.1:g.41968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3361G>A MANE Select	ENSP00000322408.4:p.Gly1121Arg
ENST00000317961.8:c.3361G>A	ENSP00000322408.4:p.Gly1121Arg
ENST00000382806.6:c.3190G>A	ENSP00000372256.2:p.Gly1064Arg
ENST00000415360.1:c.277G>A	ENSP00000389433.1:p.Gly93Arg
ENST00000440077.5:c.3238G>A	ENSP00000398543.1:p.Gly1080Arg
ENST00000469599.6:n.1959G>A
ENST00000492117.1:n.3253G>A
ENST00000541639.5:c.3454G>A	ENSP00000444293.1:p.Gly1152Arg
NM_001146705.1:c.3454G>A	NP_001140177.1:p.Gly1152Arg
NM_001146706.1:c.3190G>A	NP_001140178.1:p.Gly1064Arg
NM_004653.4:c.3361G>A	NP_004644.2:p.Gly1121Arg
XM_005262560.1:c.3226G>A	XP_005262617.1:p.Gly1076Arg
XM_005262561.1:c.3130G>A	XP_005262618.1:p.Gly1044Arg
XM_011531468.1:c.3283G>A	XP_011529770.1:p.Gly1095Arg
XR_244571.2:n.3649G>A
XR_430568.2:n.3983G>A
XM_005262560.3:c.3226G>A	XP_005262617.1:p.Gly1076Arg
XM_005262561.3:c.3130G>A	XP_005262618.1:p.Gly1044Arg
XM_011531468.3:c.3283G>A	XP_011529770.1:p.Gly1095Arg
XM_024452495.1:c.1351G>A	XP_024308263.1:p.Gly451Arg
XM_024452496.1:c.1117G>A	XP_024308264.1:p.Gly373Arg
XR_001756009.2:n.4099G>A
XR_001756010.2:n.4099G>A
XR_001756011.2:n.3964G>A
XR_001756012.2:n.4112G>A
XR_001756013.2:n.3430G>A
XR_002958832.1:n.3531G>A
XR_002958834.1:n.3755G>A
XR_002958835.1:n.3638G>A
XR_002958836.1:n.4321G>A
XR_002958837.1:n.4128G>A
XR_244571.4:n.3648G>A
XR_430568.4:n.3982G>A
NM_001146706.2:c.3190G>A	NP_001140178.1:p.Gly1064Arg
NM_004653.5:c.3361G>A MANE Select	NP_004644.2:p.Gly1121Arg
NM_001146705.2:c.3454G>A	NP_001140177.1:p.Gly1152Arg