Canonical Allele Identifier: CA451389015

Gene: HACE1

Linked Data

• MyVariant Identifiers: chr6:g.105232333A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784458A>G , CM000668.2:g.104784458A>G	GRCh38
NC_000006.11:g.105232333A>G , CM000668.1:g.105232333A>G	GRCh37
NC_000006.10:g.105339026A>G	NCBI36
NG_046782.1:g.80462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1437T>C MANE Select	ENSP00000262903.4:p.Phe479=
ENST00000262903.8:c.1437T>C	ENSP00000262903.4:p.Phe479=
ENST00000369125.6:c.1437T>C	ENSP00000358121.2:p.Phe479=
ENST00000369127.8:n.2458T>C
ENST00000416605.6:c.*994T>C	ENSP00000392425.2:n.*994T>C
ENST00000517424.1:c.242T>C
NM_020771.3:c.1437T>C	NP_065822.2:p.Phe479=
NR_104424.1:n.1808T>C
XM_006715528.2:c.1335T>C	XP_006715591.1:p.Phe445=
XM_006715529.2:c.1305T>C	XP_006715592.1:p.Phe435=
XM_006715530.2:c.933T>C	XP_006715593.1:p.Phe311=
XM_011535989.1:c.951T>C	XP_011534291.1:p.Phe317=
XM_011535990.1:c.933T>C	XP_011534292.1:p.Phe311=
XM_011535991.1:c.855T>C	XP_011534293.1:p.Phe285=
XM_011535992.1:c.1437T>C	XP_011534294.1:p.Phe479=
XR_942529.1:n.1714T>C
XR_942531.1:n.1714T>C
NM_001321080.1:c.1305T>C	NP_001308009.1:p.Phe435=
NM_001321083.1:c.1335T>C	NP_001308012.1:p.Phe445=
NM_001321084.1:c.933T>C	NP_001308013.1:p.Phe311=
NM_001350554.1:c.1203T>C	NP_001337483.1:p.Phe401=
NM_001350555.1:c.1146T>C	NP_001337484.1:p.Phe382=
NM_001350556.1:c.951T>C	NP_001337485.1:p.Phe317=
NM_001350557.1:c.933T>C	NP_001337486.1:p.Phe311=
NM_001350558.1:c.933T>C	NP_001337487.1:p.Phe311=
NM_001350559.1:c.855T>C	NP_001337488.1:p.Phe285=
NM_001350560.1:c.654T>C	NP_001337489.1:p.Phe218=
NR_146787.1:n.1555T>C
NR_146788.1:n.1725T>C
NR_146789.1:n.1714T>C
NR_146790.1:n.1714T>C
NR_146791.1:n.1714T>C
NR_146792.1:n.1808T>C
XM_017011114.2:c.1203T>C	XP_016866603.1:p.Phe401=
XM_017011119.2:c.933T>C	XP_016866608.1:p.Phe311=
XM_017011122.1:c.855T>C	XP_016866611.1:p.Phe285=
XR_001743536.1:n.1714T>C
XR_001743538.1:n.1714T>C
XR_942529.2:n.1714T>C
NM_020771.4:c.1437T>C MANE Select	NP_065822.2:p.Phe479=
NM_001321080.2:c.1305T>C	NP_001308009.1:p.Phe435=
NM_001321083.2:c.1335T>C	NP_001308012.1:p.Phe445=
NM_001321084.2:c.933T>C	NP_001308013.1:p.Phe311=
NM_001350554.2:c.1203T>C	NP_001337483.1:p.Phe401=
NM_001350555.2:c.1146T>C	NP_001337484.1:p.Phe382=
NM_001350556.2:c.951T>C	NP_001337485.1:p.Phe317=
NM_001350557.2:c.933T>C	NP_001337486.1:p.Phe311=
NM_001350558.2:c.933T>C	NP_001337487.1:p.Phe311=
NM_001350559.2:c.855T>C	NP_001337488.1:p.Phe285=
NM_001350560.2:c.654T>C	NP_001337489.1:p.Phe218=
NR_104424.2:n.1808T>C
NR_146787.2:n.1555T>C
NR_146788.2:n.1725T>C
NR_146789.2:n.1714T>C
NR_146790.2:n.1714T>C
NR_146791.2:n.1714T>C
NR_146792.2:n.1808T>C