Canonical Allele Identifier: CA8400803

Gene: ELAC2

Linked Data

• dbSNP Id: rs747444748
• ExAC: 17:12896209 G / A
• MyVariant Identifiers: chr17:g.12896209G>A (hg19) ; chr17:g.12992892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992892G>A , CM000679.2:g.12992892G>A	GRCh38
NC_000017.10:g.12896209G>A , CM000679.1:g.12896209G>A	GRCh37
NC_000017.9:g.12836934G>A	NCBI36
NG_015808.1:g.30173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2407C>T MANE Select	ENSP00000337445.4:p.Leu803=
ENST00000338034.8:c.2407C>T	ENSP00000337445.4:p.Leu803=
ENST00000395962.6:c.2350C>T	ENSP00000379291.1:p.Leu784=
ENST00000426905.7:c.2287C>T	ENSP00000405223.3:p.Leu763=
ENST00000465825.5:n.2294C>T
ENST00000480891.5:n.2236C>T
ENST00000484122.5:n.3237C>T
ENST00000487229.6:n.1953C>T
ENST00000584650.5:c.1806C>T
NM_001165962.1:c.2287C>T	NP_001159434.1:p.Leu763=
NM_018127.6:c.2407C>T	NP_060597.4:p.Leu803=
NM_173717.1:c.2404C>T	NP_776065.1:p.Leu802=
XM_024450850.1:c.2566C>T	XP_024306618.1:p.Leu856=
XM_024450851.1:c.2488C>T	XP_024306619.1:p.Leu830=
XM_024450852.1:c.2485C>T	XP_024306620.1:p.Leu829=
XM_024450853.1:c.2482C>T	XP_024306621.1:p.Leu828=
XM_024450854.1:c.2446C>T	XP_024306622.1:p.Leu816=
XM_024450855.1:c.2365C>T	XP_024306623.1:p.Leu789=
XM_024450856.1:c.2284C>T	XP_024306624.1:p.Leu762=
XM_024450857.1:c.2284C>T	XP_024306625.1:p.Leu762=
XM_024450858.1:c.2203C>T	XP_024306626.1:p.Leu735=
XM_024450859.1:c.2200C>T	XP_024306627.1:p.Leu734=
XM_024450860.1:c.2125C>T	XP_024306628.1:p.Leu709=
XM_024450861.1:c.2125C>T	XP_024306629.1:p.Leu709=
XM_024450862.1:c.2122C>T	XP_024306630.1:p.Leu708=
NM_018127.7:c.2407C>T MANE Select	NP_060597.4:p.Leu803=
NM_001165962.2:c.2287C>T	NP_001159434.1:p.Leu763=
NM_173717.2:c.2404C>T	NP_776065.1:p.Leu802=