Canonical Allele Identifier: CA414843354

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869388G>C (hg19) ; chrY:g.19707502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707502G>C , CM000686.2:g.19707502G>C	GRCh38
NC_000024.9:g.21869388G>C , CM000686.1:g.21869388G>C	GRCh37
NC_000024.8:g.20328776G>C	NCBI36
NG_032920.1:g.42438C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3644C>G MANE Select	ENSP00000322408.4:p.Thr1215Ser
ENST00000317961.8:c.3644C>G	ENSP00000322408.4:p.Thr1215Ser
ENST00000382806.6:c.3473C>G	ENSP00000372256.2:p.Thr1158Ser
ENST00000415360.1:c.560C>G	ENSP00000389433.1:p.Thr187Ser
ENST00000440077.5:c.3521C>G	ENSP00000398543.1:p.Thr1174Ser
ENST00000469599.6:n.2242C>G
ENST00000492117.1:n.3536C>G
ENST00000541639.5:c.3737C>G	ENSP00000444293.1:p.Thr1246Ser
NM_001146705.1:c.3737C>G	NP_001140177.1:p.Thr1246Ser
NM_001146706.1:c.3473C>G	NP_001140178.1:p.Thr1158Ser
NM_004653.4:c.3644C>G	NP_004644.2:p.Thr1215Ser
XM_005262560.1:c.3509C>G	XP_005262617.1:p.Thr1170Ser
XM_005262561.1:c.3413C>G	XP_005262618.1:p.Thr1138Ser
XM_011531468.1:c.3566C>G	XP_011529770.1:p.Thr1189Ser
XR_244571.2:n.3932C>G
XR_430568.2:n.4266C>G
XM_005262560.3:c.3509C>G	XP_005262617.1:p.Thr1170Ser
XM_005262561.3:c.3413C>G	XP_005262618.1:p.Thr1138Ser
XM_011531468.3:c.3566C>G	XP_011529770.1:p.Thr1189Ser
XM_024452495.1:c.1634C>G	XP_024308263.1:p.Thr545Ser
XM_024452496.1:c.1400C>G	XP_024308264.1:p.Thr467Ser
XR_001756009.2:n.4382C>G
XR_001756010.2:n.4382C>G
XR_001756011.2:n.4247C>G
XR_001756012.2:n.4395C>G
XR_001756013.2:n.3713C>G
XR_002958832.1:n.3814C>G
XR_002958834.1:n.4038C>G
XR_002958835.1:n.3921C>G
XR_002958836.1:n.4604C>G
XR_002958837.1:n.4411C>G
XR_244571.4:n.3931C>G
XR_430568.4:n.4265C>G
NM_001146706.2:c.3473C>G	NP_001140178.1:p.Thr1158Ser
NM_004653.5:c.3644C>G MANE Select	NP_004644.2:p.Thr1215Ser
NM_001146705.2:c.3737C>G	NP_001140177.1:p.Thr1246Ser