Canonical Allele Identifier: CA414843368

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869392G>C (hg19) ; chrY:g.19707506G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707506G>C , CM000686.2:g.19707506G>C	GRCh38
NC_000024.9:g.21869392G>C , CM000686.1:g.21869392G>C	GRCh37
NC_000024.8:g.20328780G>C	NCBI36
NG_032920.1:g.42434C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3640C>G MANE Select	ENSP00000322408.4:p.Leu1214Val
ENST00000317961.8:c.3640C>G	ENSP00000322408.4:p.Leu1214Val
ENST00000382806.6:c.3469C>G	ENSP00000372256.2:p.Leu1157Val
ENST00000415360.1:c.556C>G	ENSP00000389433.1:p.Leu186Val
ENST00000440077.5:c.3517C>G	ENSP00000398543.1:p.Leu1173Val
ENST00000469599.6:n.2238C>G
ENST00000492117.1:n.3532C>G
ENST00000541639.5:c.3733C>G	ENSP00000444293.1:p.Leu1245Val
NM_001146705.1:c.3733C>G	NP_001140177.1:p.Leu1245Val
NM_001146706.1:c.3469C>G	NP_001140178.1:p.Leu1157Val
NM_004653.4:c.3640C>G	NP_004644.2:p.Leu1214Val
XM_005262560.1:c.3505C>G	XP_005262617.1:p.Leu1169Val
XM_005262561.1:c.3409C>G	XP_005262618.1:p.Leu1137Val
XM_011531468.1:c.3562C>G	XP_011529770.1:p.Leu1188Val
XR_244571.2:n.3928C>G
XR_430568.2:n.4262C>G
XM_005262560.3:c.3505C>G	XP_005262617.1:p.Leu1169Val
XM_005262561.3:c.3409C>G	XP_005262618.1:p.Leu1137Val
XM_011531468.3:c.3562C>G	XP_011529770.1:p.Leu1188Val
XM_024452495.1:c.1630C>G	XP_024308263.1:p.Leu544Val
XM_024452496.1:c.1396C>G	XP_024308264.1:p.Leu466Val
XR_001756009.2:n.4378C>G
XR_001756010.2:n.4378C>G
XR_001756011.2:n.4243C>G
XR_001756012.2:n.4391C>G
XR_001756013.2:n.3709C>G
XR_002958832.1:n.3810C>G
XR_002958834.1:n.4034C>G
XR_002958835.1:n.3917C>G
XR_002958836.1:n.4600C>G
XR_002958837.1:n.4407C>G
XR_244571.4:n.3927C>G
XR_430568.4:n.4261C>G
NM_001146706.2:c.3469C>G	NP_001140178.1:p.Leu1157Val
NM_004653.5:c.3640C>G MANE Select	NP_004644.2:p.Leu1214Val
NM_001146705.2:c.3733C>G	NP_001140177.1:p.Leu1245Val