Canonical Allele Identifier: CA414843326

Gene: KDM5D

Linked Data

• MyVariant Identifiers: chrY:g.21869377G>C (hg19) ; chrY:g.19707491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707491G>C , CM000686.2:g.19707491G>C	GRCh38
NC_000024.9:g.21869377G>C , CM000686.1:g.21869377G>C	GRCh37
NC_000024.8:g.20328765G>C	NCBI36
NG_032920.1:g.42449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3655C>G MANE Select	ENSP00000322408.4:p.Leu1219Val
ENST00000317961.8:c.3655C>G	ENSP00000322408.4:p.Leu1219Val
ENST00000382806.6:c.3484C>G	ENSP00000372256.2:p.Leu1162Val
ENST00000415360.1:c.571C>G	ENSP00000389433.1:p.Leu191Val
ENST00000440077.5:c.3532C>G	ENSP00000398543.1:p.Leu1178Val
ENST00000469599.6:n.2253C>G
ENST00000492117.1:n.3547C>G
ENST00000541639.5:c.3748C>G	ENSP00000444293.1:p.Leu1250Val
NM_001146705.1:c.3748C>G	NP_001140177.1:p.Leu1250Val
NM_001146706.1:c.3484C>G	NP_001140178.1:p.Leu1162Val
NM_004653.4:c.3655C>G	NP_004644.2:p.Leu1219Val
XM_005262560.1:c.3520C>G	XP_005262617.1:p.Leu1174Val
XM_005262561.1:c.3424C>G	XP_005262618.1:p.Leu1142Val
XM_011531468.1:c.3577C>G	XP_011529770.1:p.Leu1193Val
XR_244571.2:n.3943C>G
XR_430568.2:n.4277C>G
XM_005262560.3:c.3520C>G	XP_005262617.1:p.Leu1174Val
XM_005262561.3:c.3424C>G	XP_005262618.1:p.Leu1142Val
XM_011531468.3:c.3577C>G	XP_011529770.1:p.Leu1193Val
XM_024452495.1:c.1645C>G	XP_024308263.1:p.Leu549Val
XM_024452496.1:c.1411C>G	XP_024308264.1:p.Leu471Val
XR_001756009.2:n.4393C>G
XR_001756010.2:n.4393C>G
XR_001756011.2:n.4258C>G
XR_001756012.2:n.4406C>G
XR_001756013.2:n.3724C>G
XR_002958832.1:n.3825C>G
XR_002958834.1:n.4049C>G
XR_002958835.1:n.3932C>G
XR_002958836.1:n.4615C>G
XR_002958837.1:n.4422C>G
XR_244571.4:n.3942C>G
XR_430568.4:n.4276C>G
NM_001146706.2:c.3484C>G	NP_001140178.1:p.Leu1162Val
NM_004653.5:c.3655C>G MANE Select	NP_004644.2:p.Leu1219Val
NM_001146705.2:c.3748C>G	NP_001140177.1:p.Leu1250Val