Canonical Allele Identifier: CA414843133

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869322G>C (hg19) ; chrY:g.19707436G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707436G>C , CM000686.2:g.19707436G>C	GRCh38
NC_000024.9:g.21869322G>C , CM000686.1:g.21869322G>C	GRCh37
NC_000024.8:g.20328710G>C	NCBI36
NG_032920.1:g.42504C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3710C>G MANE Select	ENSP00000322408.4:p.Ser1237Ter
ENST00000317961.8:c.3710C>G	ENSP00000322408.4:p.Ser1237Ter
ENST00000382806.6:c.3539C>G	ENSP00000372256.2:p.Ser1180Ter
ENST00000415360.1:c.626C>G	ENSP00000389433.1:p.Ser209Ter
ENST00000440077.5:c.3587C>G	ENSP00000398543.1:p.Ser1196Ter
ENST00000469599.6:n.2308C>G
ENST00000492117.1:n.3602C>G
ENST00000541639.5:c.3803C>G	ENSP00000444293.1:p.Ser1268Ter
NM_001146705.1:c.3803C>G	NP_001140177.1:p.Ser1268Ter
NM_001146706.1:c.3539C>G	NP_001140178.1:p.Ser1180Ter
NM_004653.4:c.3710C>G	NP_004644.2:p.Ser1237Ter
XM_005262560.1:c.3575C>G	XP_005262617.1:p.Ser1192Ter
XM_005262561.1:c.3479C>G	XP_005262618.1:p.Ser1160Ter
XM_011531468.1:c.3632C>G	XP_011529770.1:p.Ser1211Ter
XR_244571.2:n.3998C>G
XR_430568.2:n.4332C>G
XM_005262560.3:c.3575C>G	XP_005262617.1:p.Ser1192Ter
XM_005262561.3:c.3479C>G	XP_005262618.1:p.Ser1160Ter
XM_011531468.3:c.3632C>G	XP_011529770.1:p.Ser1211Ter
XM_024452495.1:c.1700C>G	XP_024308263.1:p.Ser567Ter
XM_024452496.1:c.1466C>G	XP_024308264.1:p.Ser489Ter
XR_001756009.2:n.4448C>G
XR_001756010.2:n.4448C>G
XR_001756011.2:n.4313C>G
XR_001756012.2:n.4461C>G
XR_001756013.2:n.3779C>G
XR_002958832.1:n.3880C>G
XR_002958834.1:n.4104C>G
XR_002958835.1:n.3987C>G
XR_002958836.1:n.4670C>G
XR_002958837.1:n.4477C>G
XR_244571.4:n.3997C>G
XR_430568.4:n.4331C>G
NM_001146706.2:c.3539C>G	NP_001140178.1:p.Ser1180Ter
NM_004653.5:c.3710C>G MANE Select	NP_004644.2:p.Ser1237Ter
NM_001146705.2:c.3803C>G	NP_001140177.1:p.Ser1268Ter