Canonical Allele Identifier: CA414843135

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869323A>C (hg19) ; chrY:g.19707437A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707437A>C , CM000686.2:g.19707437A>C	GRCh38
NC_000024.9:g.21869323A>C , CM000686.1:g.21869323A>C	GRCh37
NC_000024.8:g.20328711A>C	NCBI36
NG_032920.1:g.42503T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3709T>G MANE Select	ENSP00000322408.4:p.Ser1237Ala
ENST00000317961.8:c.3709T>G	ENSP00000322408.4:p.Ser1237Ala
ENST00000382806.6:c.3538T>G	ENSP00000372256.2:p.Ser1180Ala
ENST00000415360.1:c.625T>G	ENSP00000389433.1:p.Ser209Ala
ENST00000440077.5:c.3586T>G	ENSP00000398543.1:p.Ser1196Ala
ENST00000469599.6:n.2307T>G
ENST00000492117.1:n.3601T>G
ENST00000541639.5:c.3802T>G	ENSP00000444293.1:p.Ser1268Ala
NM_001146705.1:c.3802T>G	NP_001140177.1:p.Ser1268Ala
NM_001146706.1:c.3538T>G	NP_001140178.1:p.Ser1180Ala
NM_004653.4:c.3709T>G	NP_004644.2:p.Ser1237Ala
XM_005262560.1:c.3574T>G	XP_005262617.1:p.Ser1192Ala
XM_005262561.1:c.3478T>G	XP_005262618.1:p.Ser1160Ala
XM_011531468.1:c.3631T>G	XP_011529770.1:p.Ser1211Ala
XR_244571.2:n.3997T>G
XR_430568.2:n.4331T>G
XM_005262560.3:c.3574T>G	XP_005262617.1:p.Ser1192Ala
XM_005262561.3:c.3478T>G	XP_005262618.1:p.Ser1160Ala
XM_011531468.3:c.3631T>G	XP_011529770.1:p.Ser1211Ala
XM_024452495.1:c.1699T>G	XP_024308263.1:p.Ser567Ala
XM_024452496.1:c.1465T>G	XP_024308264.1:p.Ser489Ala
XR_001756009.2:n.4447T>G
XR_001756010.2:n.4447T>G
XR_001756011.2:n.4312T>G
XR_001756012.2:n.4460T>G
XR_001756013.2:n.3778T>G
XR_002958832.1:n.3879T>G
XR_002958834.1:n.4103T>G
XR_002958835.1:n.3986T>G
XR_002958836.1:n.4669T>G
XR_002958837.1:n.4476T>G
XR_244571.4:n.3996T>G
XR_430568.4:n.4330T>G
NM_001146706.2:c.3538T>G	NP_001140178.1:p.Ser1180Ala
NM_004653.5:c.3709T>G MANE Select	NP_004644.2:p.Ser1237Ala
NM_001146705.2:c.3802T>G	NP_001140177.1:p.Ser1268Ala