Canonical Allele Identifier: CA365135982

Gene: HACE1

Linked Data

• ClinVar Variation Id: 1324524
• ClinVar RCV Id: RCV001782244
• dbSNP Id: rs2114793034
• MyVariant Identifiers: chr6:g.105232327G>T (hg19) ; chr6:g.104784452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784452G>T , CM000668.2:g.104784452G>T	GRCh38
NC_000006.11:g.105232327G>T , CM000668.1:g.105232327G>T	GRCh37
NC_000006.10:g.105339020G>T	NCBI36
NG_046782.1:g.80468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1443C>A MANE Select	ENSP00000262903.4:p.Cys481Ter
ENST00000262903.8:c.1443C>A	ENSP00000262903.4:p.Cys481Ter
ENST00000369125.6:c.1443C>A	ENSP00000358121.2:p.Cys481Ter
ENST00000369127.8:n.2464C>A
ENST00000416605.6:c.*1000C>A	ENSP00000392425.2:n.*1000C>A
ENST00000517424.1:c.248C>A
NM_020771.3:c.1443C>A	NP_065822.2:p.Cys481Ter
NR_104424.1:n.1814C>A
XM_006715528.2:c.1341C>A	XP_006715591.1:p.Cys447Ter
XM_006715529.2:c.1311C>A	XP_006715592.1:p.Cys437Ter
XM_006715530.2:c.939C>A	XP_006715593.1:p.Cys313Ter
XM_011535989.1:c.957C>A	XP_011534291.1:p.Cys319Ter
XM_011535990.1:c.939C>A	XP_011534292.1:p.Cys313Ter
XM_011535991.1:c.861C>A	XP_011534293.1:p.Cys287Ter
XM_011535992.1:c.1443C>A	XP_011534294.1:p.Cys481Ter
XR_942529.1:n.1720C>A
XR_942531.1:n.1720C>A
NM_001321080.1:c.1311C>A	NP_001308009.1:p.Cys437Ter
NM_001321083.1:c.1341C>A	NP_001308012.1:p.Cys447Ter
NM_001321084.1:c.939C>A	NP_001308013.1:p.Cys313Ter
NM_001350554.1:c.1209C>A	NP_001337483.1:p.Cys403Ter
NM_001350555.1:c.1152C>A	NP_001337484.1:p.Cys384Ter
NM_001350556.1:c.957C>A	NP_001337485.1:p.Cys319Ter
NM_001350557.1:c.939C>A	NP_001337486.1:p.Cys313Ter
NM_001350558.1:c.939C>A	NP_001337487.1:p.Cys313Ter
NM_001350559.1:c.861C>A	NP_001337488.1:p.Cys287Ter
NM_001350560.1:c.660C>A	NP_001337489.1:p.Cys220Ter
NR_146787.1:n.1561C>A
NR_146788.1:n.1731C>A
NR_146789.1:n.1720C>A
NR_146790.1:n.1720C>A
NR_146791.1:n.1720C>A
NR_146792.1:n.1814C>A
XM_017011114.2:c.1209C>A	XP_016866603.1:p.Cys403Ter
XM_017011119.2:c.939C>A	XP_016866608.1:p.Cys313Ter
XM_017011122.1:c.861C>A	XP_016866611.1:p.Cys287Ter
XR_001743536.1:n.1720C>A
XR_001743538.1:n.1720C>A
XR_942529.2:n.1720C>A
NM_020771.4:c.1443C>A MANE Select	NP_065822.2:p.Cys481Ter
NM_001321080.2:c.1311C>A	NP_001308009.1:p.Cys437Ter
NM_001321083.2:c.1341C>A	NP_001308012.1:p.Cys447Ter
NM_001321084.2:c.939C>A	NP_001308013.1:p.Cys313Ter
NM_001350554.2:c.1209C>A	NP_001337483.1:p.Cys403Ter
NM_001350555.2:c.1152C>A	NP_001337484.1:p.Cys384Ter
NM_001350556.2:c.957C>A	NP_001337485.1:p.Cys319Ter
NM_001350557.2:c.939C>A	NP_001337486.1:p.Cys313Ter
NM_001350558.2:c.939C>A	NP_001337487.1:p.Cys313Ter
NM_001350559.2:c.861C>A	NP_001337488.1:p.Cys287Ter
NM_001350560.2:c.660C>A	NP_001337489.1:p.Cys220Ter
NR_104424.2:n.1814C>A
NR_146787.2:n.1561C>A
NR_146788.2:n.1731C>A
NR_146789.2:n.1720C>A
NR_146790.2:n.1720C>A
NR_146791.2:n.1720C>A
NR_146792.2:n.1814C>A