Canonical Allele Identifier: CA414843187

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869338G>C (hg19) ; chrY:g.19707452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707452G>C , CM000686.2:g.19707452G>C	GRCh38
NC_000024.9:g.21869338G>C , CM000686.1:g.21869338G>C	GRCh37
NC_000024.8:g.20328726G>C	NCBI36
NG_032920.1:g.42488C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3694C>G MANE Select	ENSP00000322408.4:p.Pro1232Ala
ENST00000317961.8:c.3694C>G	ENSP00000322408.4:p.Pro1232Ala
ENST00000382806.6:c.3523C>G	ENSP00000372256.2:p.Pro1175Ala
ENST00000415360.1:c.610C>G	ENSP00000389433.1:p.Pro204Ala
ENST00000440077.5:c.3571C>G	ENSP00000398543.1:p.Pro1191Ala
ENST00000469599.6:n.2292C>G
ENST00000492117.1:n.3586C>G
ENST00000541639.5:c.3787C>G	ENSP00000444293.1:p.Pro1263Ala
NM_001146705.1:c.3787C>G	NP_001140177.1:p.Pro1263Ala
NM_001146706.1:c.3523C>G	NP_001140178.1:p.Pro1175Ala
NM_004653.4:c.3694C>G	NP_004644.2:p.Pro1232Ala
XM_005262560.1:c.3559C>G	XP_005262617.1:p.Pro1187Ala
XM_005262561.1:c.3463C>G	XP_005262618.1:p.Pro1155Ala
XM_011531468.1:c.3616C>G	XP_011529770.1:p.Pro1206Ala
XR_244571.2:n.3982C>G
XR_430568.2:n.4316C>G
XM_005262560.3:c.3559C>G	XP_005262617.1:p.Pro1187Ala
XM_005262561.3:c.3463C>G	XP_005262618.1:p.Pro1155Ala
XM_011531468.3:c.3616C>G	XP_011529770.1:p.Pro1206Ala
XM_024452495.1:c.1684C>G	XP_024308263.1:p.Pro562Ala
XM_024452496.1:c.1450C>G	XP_024308264.1:p.Pro484Ala
XR_001756009.2:n.4432C>G
XR_001756010.2:n.4432C>G
XR_001756011.2:n.4297C>G
XR_001756012.2:n.4445C>G
XR_001756013.2:n.3763C>G
XR_002958832.1:n.3864C>G
XR_002958834.1:n.4088C>G
XR_002958835.1:n.3971C>G
XR_002958836.1:n.4654C>G
XR_002958837.1:n.4461C>G
XR_244571.4:n.3981C>G
XR_430568.4:n.4315C>G
NM_001146706.2:c.3523C>G	NP_001140178.1:p.Pro1175Ala
NM_004653.5:c.3694C>G MANE Select	NP_004644.2:p.Pro1232Ala
NM_001146705.2:c.3787C>G	NP_001140177.1:p.Pro1263Ala