Canonical Allele Identifier: CA414839931

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867937A>C (hg19) ; chrY:g.19706051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706051A>C , CM000686.2:g.19706051A>C	GRCh38
NC_000024.9:g.21867937A>C , CM000686.1:g.21867937A>C	GRCh37
NC_000024.8:g.20327325A>C	NCBI36
NG_032920.1:g.43889T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4564T>G MANE Select	ENSP00000322408.4:p.Cys1522Gly
ENST00000317961.8:c.4564T>G	ENSP00000322408.4:p.Cys1522Gly
ENST00000382806.6:c.4393T>G	ENSP00000372256.2:p.Cys1465Gly
ENST00000469599.6:n.3315T>G
ENST00000492117.1:n.4609T>G
ENST00000541639.5:c.4657T>G	ENSP00000444293.1:p.Cys1553Gly
NM_001146705.1:c.4657T>G	NP_001140177.1:p.Cys1553Gly
NM_001146706.1:c.4393T>G	NP_001140178.1:p.Cys1465Gly
NM_004653.4:c.4564T>G	NP_004644.2:p.Cys1522Gly
XM_005262560.1:c.4429T>G	XP_005262617.1:p.Cys1477Gly
XM_005262561.1:c.4333T>G	XP_005262618.1:p.Cys1445Gly
XM_011531468.1:c.4486T>G	XP_011529770.1:p.Cys1496Gly
XR_430568.2:n.5339T>G
XM_005262560.3:c.4429T>G	XP_005262617.1:p.Cys1477Gly
XM_005262561.3:c.4333T>G	XP_005262618.1:p.Cys1445Gly
XM_011531468.3:c.4486T>G	XP_011529770.1:p.Cys1496Gly
XM_024452495.1:c.2554T>G	XP_024308263.1:p.Cys852Gly
XM_024452496.1:c.2320T>G	XP_024308264.1:p.Cys774Gly
XR_001756009.2:n.5302T>G
XR_001756010.2:n.5270T>G
XR_001756011.2:n.5167T>G
XR_001756012.2:n.5315T>G
XR_001756013.2:n.4633T>G
XR_002958832.1:n.4887T>G
XR_002958834.1:n.4958T>G
XR_002958835.1:n.4841T>G
XR_002958836.1:n.5492T>G
XR_002958837.1:n.5299T>G
XR_244571.4:n.4819T>G
XR_430568.4:n.5338T>G
NM_001146706.2:c.4393T>G	NP_001140178.1:p.Cys1465Gly
NM_004653.5:c.4564T>G MANE Select	NP_004644.2:p.Cys1522Gly
NM_001146705.2:c.4657T>G	NP_001140177.1:p.Cys1553Gly