Canonical Allele Identifier: CA414841906

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21868695G>C (hg19) ; chrY:g.19706809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706809G>C , CM000686.2:g.19706809G>C	GRCh38
NC_000024.9:g.21868695G>C , CM000686.1:g.21868695G>C	GRCh37
NC_000024.8:g.20328083G>C	NCBI36
NG_032920.1:g.43131C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.4054C>G MANE Select	ENSP00000322408.4:p.Pro1352Ala
ENST00000317961.8:c.4054C>G	ENSP00000322408.4:p.Pro1352Ala
ENST00000382806.6:c.3883C>G	ENSP00000372256.2:p.Pro1295Ala
ENST00000440077.5:c.3931C>G	ENSP00000398543.1:p.Pro1311Ala
ENST00000469599.6:n.2652C>G
ENST00000492117.1:n.3946C>G
ENST00000541639.5:c.4147C>G	ENSP00000444293.1:p.Pro1383Ala
NM_001146705.1:c.4147C>G	NP_001140177.1:p.Pro1383Ala
NM_001146706.1:c.3883C>G	NP_001140178.1:p.Pro1295Ala
NM_004653.4:c.4054C>G	NP_004644.2:p.Pro1352Ala
XM_005262560.1:c.3919C>G	XP_005262617.1:p.Pro1307Ala
XM_005262561.1:c.3823C>G	XP_005262618.1:p.Pro1275Ala
XM_011531468.1:c.3976C>G	XP_011529770.1:p.Pro1326Ala
XR_244571.2:n.4342C>G
XR_430568.2:n.4676C>G
XM_005262560.3:c.3919C>G	XP_005262617.1:p.Pro1307Ala
XM_005262561.3:c.3823C>G	XP_005262618.1:p.Pro1275Ala
XM_011531468.3:c.3976C>G	XP_011529770.1:p.Pro1326Ala
XM_024452495.1:c.2044C>G	XP_024308263.1:p.Pro682Ala
XM_024452496.1:c.1810C>G	XP_024308264.1:p.Pro604Ala
XR_001756009.2:n.4792C>G
XR_001756010.2:n.4792C>G
XR_001756011.2:n.4657C>G
XR_001756012.2:n.4805C>G
XR_001756013.2:n.4123C>G
XR_002958832.1:n.4224C>G
XR_002958834.1:n.4448C>G
XR_002958835.1:n.4331C>G
XR_002958836.1:n.5014C>G
XR_002958837.1:n.4821C>G
XR_244571.4:n.4341C>G
XR_430568.4:n.4675C>G
NM_001146706.2:c.3883C>G	NP_001140178.1:p.Pro1295Ala
NM_004653.5:c.4054C>G MANE Select	NP_004644.2:p.Pro1352Ala
NM_001146705.2:c.4147C>G	NP_001140177.1:p.Pro1383Ala