Canonical Allele Identifier: CA365135912

Gene: HACE1

Linked Data

• MyVariant Identifiers: chr6:g.105232299C>G (hg19) ; chr6:g.104784424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784424C>G , CM000668.2:g.104784424C>G	GRCh38
NC_000006.11:g.105232299C>G , CM000668.1:g.105232299C>G	GRCh37
NC_000006.10:g.105338992C>G	NCBI36
NG_046782.1:g.80496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1471G>C MANE Select	ENSP00000262903.4:p.Val491Leu
ENST00000262903.8:c.1471G>C	ENSP00000262903.4:p.Val491Leu
ENST00000369125.6:c.1471G>C	ENSP00000358121.2:p.Val491Leu
ENST00000369127.8:n.2492G>C
ENST00000416605.6:c.*1028G>C	ENSP00000392425.2:n.*1028G>C
ENST00000517424.1:c.276G>C
NM_020771.3:c.1471G>C	NP_065822.2:p.Val491Leu
NR_104424.1:n.1842G>C
XM_006715528.2:c.1369G>C	XP_006715591.1:p.Val457Leu
XM_006715529.2:c.1339G>C	XP_006715592.1:p.Val447Leu
XM_006715530.2:c.967G>C	XP_006715593.1:p.Val323Leu
XM_011535989.1:c.985G>C	XP_011534291.1:p.Val329Leu
XM_011535990.1:c.967G>C	XP_011534292.1:p.Val323Leu
XM_011535991.1:c.889G>C	XP_011534293.1:p.Val297Leu
XM_011535992.1:c.1471G>C	XP_011534294.1:p.Val491Leu
XR_942529.1:n.1748G>C
XR_942531.1:n.1748G>C
NM_001321080.1:c.1339G>C	NP_001308009.1:p.Val447Leu
NM_001321083.1:c.1369G>C	NP_001308012.1:p.Val457Leu
NM_001321084.1:c.967G>C	NP_001308013.1:p.Val323Leu
NM_001350554.1:c.1237G>C	NP_001337483.1:p.Val413Leu
NM_001350555.1:c.1180G>C	NP_001337484.1:p.Val394Leu
NM_001350556.1:c.985G>C	NP_001337485.1:p.Val329Leu
NM_001350557.1:c.967G>C	NP_001337486.1:p.Val323Leu
NM_001350558.1:c.967G>C	NP_001337487.1:p.Val323Leu
NM_001350559.1:c.889G>C	NP_001337488.1:p.Val297Leu
NM_001350560.1:c.688G>C	NP_001337489.1:p.Val230Leu
NR_146787.1:n.1589G>C
NR_146788.1:n.1759G>C
NR_146789.1:n.1748G>C
NR_146790.1:n.1748G>C
NR_146791.1:n.1748G>C
NR_146792.1:n.1842G>C
XM_017011114.2:c.1237G>C	XP_016866603.1:p.Val413Leu
XM_017011119.2:c.967G>C	XP_016866608.1:p.Val323Leu
XM_017011122.1:c.889G>C	XP_016866611.1:p.Val297Leu
XR_001743536.1:n.1748G>C
XR_001743538.1:n.1748G>C
XR_942529.2:n.1748G>C
NM_020771.4:c.1471G>C MANE Select	NP_065822.2:p.Val491Leu
NM_001321080.2:c.1339G>C	NP_001308009.1:p.Val447Leu
NM_001321083.2:c.1369G>C	NP_001308012.1:p.Val457Leu
NM_001321084.2:c.967G>C	NP_001308013.1:p.Val323Leu
NM_001350554.2:c.1237G>C	NP_001337483.1:p.Val413Leu
NM_001350555.2:c.1180G>C	NP_001337484.1:p.Val394Leu
NM_001350556.2:c.985G>C	NP_001337485.1:p.Val329Leu
NM_001350557.2:c.967G>C	NP_001337486.1:p.Val323Leu
NM_001350558.2:c.967G>C	NP_001337487.1:p.Val323Leu
NM_001350559.2:c.889G>C	NP_001337488.1:p.Val297Leu
NM_001350560.2:c.688G>C	NP_001337489.1:p.Val230Leu
NR_104424.2:n.1842G>C
NR_146787.2:n.1589G>C
NR_146788.2:n.1759G>C
NR_146789.2:n.1748G>C
NR_146790.2:n.1748G>C
NR_146791.2:n.1748G>C
NR_146792.2:n.1842G>C