Canonical Allele Identifier: CA365135956

Gene: HACE1

Linked Data

• gnomAD v4: 6-104784442-C-G
• MyVariant Identifiers: chr6:g.105232317C>G (hg19) ; chr6:g.104784442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784442C>G , CM000668.2:g.104784442C>G	GRCh38
NC_000006.11:g.105232317C>G , CM000668.1:g.105232317C>G	GRCh37
NC_000006.10:g.105339010C>G	NCBI36
NG_046782.1:g.80478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1453G>C MANE Select	ENSP00000262903.4:p.Glu485Gln
ENST00000262903.8:c.1453G>C	ENSP00000262903.4:p.Glu485Gln
ENST00000369125.6:c.1453G>C	ENSP00000358121.2:p.Glu485Gln
ENST00000369127.8:n.2474G>C
ENST00000416605.6:c.*1010G>C	ENSP00000392425.2:n.*1010G>C
ENST00000517424.1:c.258G>C
NM_020771.3:c.1453G>C	NP_065822.2:p.Glu485Gln
NR_104424.1:n.1824G>C
XM_006715528.2:c.1351G>C	XP_006715591.1:p.Glu451Gln
XM_006715529.2:c.1321G>C	XP_006715592.1:p.Glu441Gln
XM_006715530.2:c.949G>C	XP_006715593.1:p.Glu317Gln
XM_011535989.1:c.967G>C	XP_011534291.1:p.Glu323Gln
XM_011535990.1:c.949G>C	XP_011534292.1:p.Glu317Gln
XM_011535991.1:c.871G>C	XP_011534293.1:p.Glu291Gln
XM_011535992.1:c.1453G>C	XP_011534294.1:p.Glu485Gln
XR_942529.1:n.1730G>C
XR_942531.1:n.1730G>C
NM_001321080.1:c.1321G>C	NP_001308009.1:p.Glu441Gln
NM_001321083.1:c.1351G>C	NP_001308012.1:p.Glu451Gln
NM_001321084.1:c.949G>C	NP_001308013.1:p.Glu317Gln
NM_001350554.1:c.1219G>C	NP_001337483.1:p.Glu407Gln
NM_001350555.1:c.1162G>C	NP_001337484.1:p.Glu388Gln
NM_001350556.1:c.967G>C	NP_001337485.1:p.Glu323Gln
NM_001350557.1:c.949G>C	NP_001337486.1:p.Glu317Gln
NM_001350558.1:c.949G>C	NP_001337487.1:p.Glu317Gln
NM_001350559.1:c.871G>C	NP_001337488.1:p.Glu291Gln
NM_001350560.1:c.670G>C	NP_001337489.1:p.Glu224Gln
NR_146787.1:n.1571G>C
NR_146788.1:n.1741G>C
NR_146789.1:n.1730G>C
NR_146790.1:n.1730G>C
NR_146791.1:n.1730G>C
NR_146792.1:n.1824G>C
XM_017011114.2:c.1219G>C	XP_016866603.1:p.Glu407Gln
XM_017011119.2:c.949G>C	XP_016866608.1:p.Glu317Gln
XM_017011122.1:c.871G>C	XP_016866611.1:p.Glu291Gln
XR_001743536.1:n.1730G>C
XR_001743538.1:n.1730G>C
XR_942529.2:n.1730G>C
NM_020771.4:c.1453G>C MANE Select	NP_065822.2:p.Glu485Gln
NM_001321080.2:c.1321G>C	NP_001308009.1:p.Glu441Gln
NM_001321083.2:c.1351G>C	NP_001308012.1:p.Glu451Gln
NM_001321084.2:c.949G>C	NP_001308013.1:p.Glu317Gln
NM_001350554.2:c.1219G>C	NP_001337483.1:p.Glu407Gln
NM_001350555.2:c.1162G>C	NP_001337484.1:p.Glu388Gln
NM_001350556.2:c.967G>C	NP_001337485.1:p.Glu323Gln
NM_001350557.2:c.949G>C	NP_001337486.1:p.Glu317Gln
NM_001350558.2:c.949G>C	NP_001337487.1:p.Glu317Gln
NM_001350559.2:c.871G>C	NP_001337488.1:p.Glu291Gln
NM_001350560.2:c.670G>C	NP_001337489.1:p.Glu224Gln
NR_104424.2:n.1824G>C
NR_146787.2:n.1571G>C
NR_146788.2:n.1741G>C
NR_146789.2:n.1730G>C
NR_146790.2:n.1730G>C
NR_146791.2:n.1730G>C
NR_146792.2:n.1824G>C