Canonical Allele Identifier: CA451388994

Gene: HACE1

Linked Data

• dbSNP Id: rs1251661368
• gnomAD v2: 6-105232312-A-G
• gnomAD v4: 6-104784437-A-G
• MyVariant Identifiers: chr6:g.105232312A>G (hg19) ; chr6:g.104784437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784437A>G , CM000668.2:g.104784437A>G	GRCh38
NC_000006.11:g.105232312A>G , CM000668.1:g.105232312A>G	GRCh37
NC_000006.10:g.105339005A>G	NCBI36
NG_046782.1:g.80483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1458T>C MANE Select	ENSP00000262903.4:p.Val486=
ENST00000262903.8:c.1458T>C	ENSP00000262903.4:p.Val486=
ENST00000369125.6:c.1458T>C	ENSP00000358121.2:p.Val486=
ENST00000369127.8:n.2479T>C
ENST00000416605.6:c.*1015T>C	ENSP00000392425.2:n.*1015T>C
ENST00000517424.1:c.263T>C
NM_020771.3:c.1458T>C	NP_065822.2:p.Val486=
NR_104424.1:n.1829T>C
XM_006715528.2:c.1356T>C	XP_006715591.1:p.Val452=
XM_006715529.2:c.1326T>C	XP_006715592.1:p.Val442=
XM_006715530.2:c.954T>C	XP_006715593.1:p.Val318=
XM_011535989.1:c.972T>C	XP_011534291.1:p.Val324=
XM_011535990.1:c.954T>C	XP_011534292.1:p.Val318=
XM_011535991.1:c.876T>C	XP_011534293.1:p.Val292=
XM_011535992.1:c.1458T>C	XP_011534294.1:p.Val486=
XR_942529.1:n.1735T>C
XR_942531.1:n.1735T>C
NM_001321080.1:c.1326T>C	NP_001308009.1:p.Val442=
NM_001321083.1:c.1356T>C	NP_001308012.1:p.Val452=
NM_001321084.1:c.954T>C	NP_001308013.1:p.Val318=
NM_001350554.1:c.1224T>C	NP_001337483.1:p.Val408=
NM_001350555.1:c.1167T>C	NP_001337484.1:p.Val389=
NM_001350556.1:c.972T>C	NP_001337485.1:p.Val324=
NM_001350557.1:c.954T>C	NP_001337486.1:p.Val318=
NM_001350558.1:c.954T>C	NP_001337487.1:p.Val318=
NM_001350559.1:c.876T>C	NP_001337488.1:p.Val292=
NM_001350560.1:c.675T>C	NP_001337489.1:p.Val225=
NR_146787.1:n.1576T>C
NR_146788.1:n.1746T>C
NR_146789.1:n.1735T>C
NR_146790.1:n.1735T>C
NR_146791.1:n.1735T>C
NR_146792.1:n.1829T>C
XM_017011114.2:c.1224T>C	XP_016866603.1:p.Val408=
XM_017011119.2:c.954T>C	XP_016866608.1:p.Val318=
XM_017011122.1:c.876T>C	XP_016866611.1:p.Val292=
XR_001743536.1:n.1735T>C
XR_001743538.1:n.1735T>C
XR_942529.2:n.1735T>C
NM_020771.4:c.1458T>C MANE Select	NP_065822.2:p.Val486=
NM_001321080.2:c.1326T>C	NP_001308009.1:p.Val442=
NM_001321083.2:c.1356T>C	NP_001308012.1:p.Val452=
NM_001321084.2:c.954T>C	NP_001308013.1:p.Val318=
NM_001350554.2:c.1224T>C	NP_001337483.1:p.Val408=
NM_001350555.2:c.1167T>C	NP_001337484.1:p.Val389=
NM_001350556.2:c.972T>C	NP_001337485.1:p.Val324=
NM_001350557.2:c.954T>C	NP_001337486.1:p.Val318=
NM_001350558.2:c.954T>C	NP_001337487.1:p.Val318=
NM_001350559.2:c.876T>C	NP_001337488.1:p.Val292=
NM_001350560.2:c.675T>C	NP_001337489.1:p.Val225=
NR_104424.2:n.1829T>C
NR_146787.2:n.1576T>C
NR_146788.2:n.1746T>C
NR_146789.2:n.1735T>C
NR_146790.2:n.1735T>C
NR_146791.2:n.1735T>C
NR_146792.2:n.1829T>C