Canonical Allele Identifier: CA414843831

Gene: KDM5D

Linked Data

• dbSNP Id: rs2045254716
• gnomAD v3: Y-19707626-T-C
• gnomAD v4: Y-19707626-T-C
• MyVariant Identifiers: chrY:g.21869512T>C (hg19) ; chrY:g.19707626T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707626T>C , CM000686.2:g.19707626T>C	GRCh38
NC_000024.9:g.21869512T>C , CM000686.1:g.21869512T>C	GRCh37
NC_000024.8:g.20328900T>C	NCBI36
NG_032920.1:g.42314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3520A>G MANE Select	ENSP00000322408.4:p.Ile1174Val
ENST00000317961.8:c.3520A>G	ENSP00000322408.4:p.Ile1174Val
ENST00000382806.6:c.3349A>G	ENSP00000372256.2:p.Ile1117Val
ENST00000415360.1:c.436A>G	ENSP00000389433.1:p.Ile146Val
ENST00000440077.5:c.3397A>G	ENSP00000398543.1:p.Ile1133Val
ENST00000469599.6:n.2118A>G
ENST00000492117.1:n.3412A>G
ENST00000541639.5:c.3613A>G	ENSP00000444293.1:p.Ile1205Val
NM_001146705.1:c.3613A>G	NP_001140177.1:p.Ile1205Val
NM_001146706.1:c.3349A>G	NP_001140178.1:p.Ile1117Val
NM_004653.4:c.3520A>G	NP_004644.2:p.Ile1174Val
XM_005262560.1:c.3385A>G	XP_005262617.1:p.Ile1129Val
XM_005262561.1:c.3289A>G	XP_005262618.1:p.Ile1097Val
XM_011531468.1:c.3442A>G	XP_011529770.1:p.Ile1148Val
XR_244571.2:n.3808A>G
XR_430568.2:n.4142A>G
XM_005262560.3:c.3385A>G	XP_005262617.1:p.Ile1129Val
XM_005262561.3:c.3289A>G	XP_005262618.1:p.Ile1097Val
XM_011531468.3:c.3442A>G	XP_011529770.1:p.Ile1148Val
XM_024452495.1:c.1510A>G	XP_024308263.1:p.Ile504Val
XM_024452496.1:c.1276A>G	XP_024308264.1:p.Ile426Val
XR_001756009.2:n.4258A>G
XR_001756010.2:n.4258A>G
XR_001756011.2:n.4123A>G
XR_001756012.2:n.4271A>G
XR_001756013.2:n.3589A>G
XR_002958832.1:n.3690A>G
XR_002958834.1:n.3914A>G
XR_002958835.1:n.3797A>G
XR_002958836.1:n.4480A>G
XR_002958837.1:n.4287A>G
XR_244571.4:n.3807A>G
XR_430568.4:n.4141A>G
NM_001146706.2:c.3349A>G	NP_001140178.1:p.Ile1117Val
NM_004653.5:c.3520A>G MANE Select	NP_004644.2:p.Ile1174Val
NM_001146705.2:c.3613A>G	NP_001140177.1:p.Ile1205Val