Canonical Allele Identifier: CA451388989

Gene: HACE1

Linked Data

• MyVariant Identifiers: chr6:g.105232309T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784434T>C , CM000668.2:g.104784434T>C	GRCh38
NC_000006.11:g.105232309T>C , CM000668.1:g.105232309T>C	GRCh37
NC_000006.10:g.105339002T>C	NCBI36
NG_046782.1:g.80486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1461A>G MANE Select	ENSP00000262903.4:p.Leu487=
ENST00000262903.8:c.1461A>G	ENSP00000262903.4:p.Leu487=
ENST00000369125.6:c.1461A>G	ENSP00000358121.2:p.Leu487=
ENST00000369127.8:n.2482A>G
ENST00000416605.6:c.*1018A>G	ENSP00000392425.2:n.*1018A>G
ENST00000517424.1:c.266A>G
NM_020771.3:c.1461A>G	NP_065822.2:p.Leu487=
NR_104424.1:n.1832A>G
XM_006715528.2:c.1359A>G	XP_006715591.1:p.Leu453=
XM_006715529.2:c.1329A>G	XP_006715592.1:p.Leu443=
XM_006715530.2:c.957A>G	XP_006715593.1:p.Leu319=
XM_011535989.1:c.975A>G	XP_011534291.1:p.Leu325=
XM_011535990.1:c.957A>G	XP_011534292.1:p.Leu319=
XM_011535991.1:c.879A>G	XP_011534293.1:p.Leu293=
XM_011535992.1:c.1461A>G	XP_011534294.1:p.Leu487=
XR_942529.1:n.1738A>G
XR_942531.1:n.1738A>G
NM_001321080.1:c.1329A>G	NP_001308009.1:p.Leu443=
NM_001321083.1:c.1359A>G	NP_001308012.1:p.Leu453=
NM_001321084.1:c.957A>G	NP_001308013.1:p.Leu319=
NM_001350554.1:c.1227A>G	NP_001337483.1:p.Leu409=
NM_001350555.1:c.1170A>G	NP_001337484.1:p.Leu390=
NM_001350556.1:c.975A>G	NP_001337485.1:p.Leu325=
NM_001350557.1:c.957A>G	NP_001337486.1:p.Leu319=
NM_001350558.1:c.957A>G	NP_001337487.1:p.Leu319=
NM_001350559.1:c.879A>G	NP_001337488.1:p.Leu293=
NM_001350560.1:c.678A>G	NP_001337489.1:p.Leu226=
NR_146787.1:n.1579A>G
NR_146788.1:n.1749A>G
NR_146789.1:n.1738A>G
NR_146790.1:n.1738A>G
NR_146791.1:n.1738A>G
NR_146792.1:n.1832A>G
XM_017011114.2:c.1227A>G	XP_016866603.1:p.Leu409=
XM_017011119.2:c.957A>G	XP_016866608.1:p.Leu319=
XM_017011122.1:c.879A>G	XP_016866611.1:p.Leu293=
XR_001743536.1:n.1738A>G
XR_001743538.1:n.1738A>G
XR_942529.2:n.1738A>G
NM_020771.4:c.1461A>G MANE Select	NP_065822.2:p.Leu487=
NM_001321080.2:c.1329A>G	NP_001308009.1:p.Leu443=
NM_001321083.2:c.1359A>G	NP_001308012.1:p.Leu453=
NM_001321084.2:c.957A>G	NP_001308013.1:p.Leu319=
NM_001350554.2:c.1227A>G	NP_001337483.1:p.Leu409=
NM_001350555.2:c.1170A>G	NP_001337484.1:p.Leu390=
NM_001350556.2:c.975A>G	NP_001337485.1:p.Leu325=
NM_001350557.2:c.957A>G	NP_001337486.1:p.Leu319=
NM_001350558.2:c.957A>G	NP_001337487.1:p.Leu319=
NM_001350559.2:c.879A>G	NP_001337488.1:p.Leu293=
NM_001350560.2:c.678A>G	NP_001337489.1:p.Leu226=
NR_104424.2:n.1832A>G
NR_146787.2:n.1579A>G
NR_146788.2:n.1749A>G
NR_146789.2:n.1738A>G
NR_146790.2:n.1738A>G
NR_146791.2:n.1738A>G
NR_146792.2:n.1832A>G