Canonical Allele Identifier: CA414839927

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21867936C>G (hg19) ; chrY:g.19706050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706050C>G , CM000686.2:g.19706050C>G	GRCh38
NC_000024.9:g.21867936C>G , CM000686.1:g.21867936C>G	GRCh37
NC_000024.8:g.20327324C>G	NCBI36
NG_032920.1:g.43890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4565G>C MANE Select	ENSP00000322408.4:p.Cys1522Ser
ENST00000317961.8:c.4565G>C	ENSP00000322408.4:p.Cys1522Ser
ENST00000382806.6:c.4394G>C	ENSP00000372256.2:p.Cys1465Ser
ENST00000469599.6:n.3316G>C
ENST00000492117.1:n.4610G>C
ENST00000541639.5:c.4658G>C	ENSP00000444293.1:p.Cys1553Ser
NM_001146705.1:c.4658G>C	NP_001140177.1:p.Cys1553Ser
NM_001146706.1:c.4394G>C	NP_001140178.1:p.Cys1465Ser
NM_004653.4:c.4565G>C	NP_004644.2:p.Cys1522Ser
XM_005262560.1:c.4430G>C	XP_005262617.1:p.Cys1477Ser
XM_005262561.1:c.4334G>C	XP_005262618.1:p.Cys1445Ser
XM_011531468.1:c.4487G>C	XP_011529770.1:p.Cys1496Ser
XR_430568.2:n.5340G>C
XM_005262560.3:c.4430G>C	XP_005262617.1:p.Cys1477Ser
XM_005262561.3:c.4334G>C	XP_005262618.1:p.Cys1445Ser
XM_011531468.3:c.4487G>C	XP_011529770.1:p.Cys1496Ser
XM_024452495.1:c.2555G>C	XP_024308263.1:p.Cys852Ser
XM_024452496.1:c.2321G>C	XP_024308264.1:p.Cys774Ser
XR_001756009.2:n.5303G>C
XR_001756010.2:n.5271G>C
XR_001756011.2:n.5168G>C
XR_001756012.2:n.5316G>C
XR_001756013.2:n.4634G>C
XR_002958832.1:n.4888G>C
XR_002958834.1:n.4959G>C
XR_002958835.1:n.4842G>C
XR_002958836.1:n.5493G>C
XR_002958837.1:n.5300G>C
XR_244571.4:n.4820G>C
XR_430568.4:n.5339G>C
NM_001146706.2:c.4394G>C	NP_001140178.1:p.Cys1465Ser
NM_004653.5:c.4565G>C MANE Select	NP_004644.2:p.Cys1522Ser
NM_001146705.2:c.4658G>C	NP_001140177.1:p.Cys1553Ser