Canonical Allele Identifier: CA414840180

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867998G>C (hg19) ; chrY:g.19706112G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706112G>C , CM000686.2:g.19706112G>C	GRCh38
NC_000024.9:g.21867998G>C , CM000686.1:g.21867998G>C	GRCh37
NC_000024.8:g.20327386G>C	NCBI36
NG_032920.1:g.43828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4503C>G MANE Select	ENSP00000322408.4:p.Ser1501Arg
ENST00000317961.8:c.4503C>G	ENSP00000322408.4:p.Ser1501Arg
ENST00000382806.6:c.4332C>G	ENSP00000372256.2:p.Ser1444Arg
ENST00000440077.5:c.4380C>G	ENSP00000398543.1:p.Ser1460Arg
ENST00000469599.6:n.3254C>G
ENST00000492117.1:n.4548C>G
ENST00000541639.5:c.4596C>G	ENSP00000444293.1:p.Ser1532Arg
NM_001146705.1:c.4596C>G	NP_001140177.1:p.Ser1532Arg
NM_001146706.1:c.4332C>G	NP_001140178.1:p.Ser1444Arg
NM_004653.4:c.4503C>G	NP_004644.2:p.Ser1501Arg
XM_005262560.1:c.4368C>G	XP_005262617.1:p.Ser1456Arg
XM_005262561.1:c.4272C>G	XP_005262618.1:p.Ser1424Arg
XM_011531468.1:c.4425C>G	XP_011529770.1:p.Ser1475Arg
XR_430568.2:n.5278C>G
XM_005262560.3:c.4368C>G	XP_005262617.1:p.Ser1456Arg
XM_005262561.3:c.4272C>G	XP_005262618.1:p.Ser1424Arg
XM_011531468.3:c.4425C>G	XP_011529770.1:p.Ser1475Arg
XM_024452495.1:c.2493C>G	XP_024308263.1:p.Ser831Arg
XM_024452496.1:c.2259C>G	XP_024308264.1:p.Ser753Arg
XR_001756009.2:n.5241C>G
XR_001756010.2:n.5209C>G
XR_001756011.2:n.5106C>G
XR_001756012.2:n.5254C>G
XR_001756013.2:n.4572C>G
XR_002958832.1:n.4826C>G
XR_002958834.1:n.4897C>G
XR_002958835.1:n.4780C>G
XR_002958836.1:n.5431C>G
XR_002958837.1:n.5238C>G
XR_244571.4:n.4758C>G
XR_430568.4:n.5277C>G
NM_001146706.2:c.4332C>G	NP_001140178.1:p.Ser1444Arg
NM_004653.5:c.4503C>G MANE Select	NP_004644.2:p.Ser1501Arg
NM_001146705.2:c.4596C>G	NP_001140177.1:p.Ser1532Arg