Canonical Allele Identifier: CA414843185

Gene: KDM5D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3694C>T MANE Select	ENSP00000322408.4:p.Pro1232Ser
ENST00000317961.8:c.3694C>T	ENSP00000322408.4:p.Pro1232Ser
ENST00000382806.6:c.3523C>T	ENSP00000372256.2:p.Pro1175Ser
ENST00000415360.1:c.610C>T	ENSP00000389433.1:p.Pro204Ser
ENST00000440077.5:c.3571C>T	ENSP00000398543.1:p.Pro1191Ser
ENST00000469599.6:n.2292C>T
ENST00000492117.1:n.3586C>T
ENST00000541639.5:c.3787C>T	ENSP00000444293.1:p.Pro1263Ser
NM_001146705.1:c.3787C>T	NP_001140177.1:p.Pro1263Ser
NM_001146706.1:c.3523C>T	NP_001140178.1:p.Pro1175Ser
NM_004653.4:c.3694C>T	NP_004644.2:p.Pro1232Ser
XM_005262560.1:c.3559C>T	XP_005262617.1:p.Pro1187Ser
XM_005262561.1:c.3463C>T	XP_005262618.1:p.Pro1155Ser
XM_011531468.1:c.3616C>T	XP_011529770.1:p.Pro1206Ser
XR_244571.2:n.3982C>T
XR_430568.2:n.4316C>T
XM_005262560.3:c.3559C>T	XP_005262617.1:p.Pro1187Ser
XM_005262561.3:c.3463C>T	XP_005262618.1:p.Pro1155Ser
XM_011531468.3:c.3616C>T	XP_011529770.1:p.Pro1206Ser
XM_024452495.1:c.1684C>T	XP_024308263.1:p.Pro562Ser
XM_024452496.1:c.1450C>T	XP_024308264.1:p.Pro484Ser
XR_001756009.2:n.4432C>T
XR_001756010.2:n.4432C>T
XR_001756011.2:n.4297C>T
XR_001756012.2:n.4445C>T
XR_001756013.2:n.3763C>T
XR_002958832.1:n.3864C>T
XR_002958834.1:n.4088C>T
XR_002958835.1:n.3971C>T
XR_002958836.1:n.4654C>T
XR_002958837.1:n.4461C>T
XR_244571.4:n.3981C>T
XR_430568.4:n.4315C>T
NM_001146706.2:c.3523C>T	NP_001140178.1:p.Pro1175Ser
NM_004653.5:c.3694C>T MANE Select	NP_004644.2:p.Pro1232Ser
NM_001146705.2:c.3787C>T	NP_001140177.1:p.Pro1263Ser