Canonical Allele Identifier: CA398223904

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12996585C>G , CM000679.2:g.12996585C>G	GRCh38
NC_000017.10:g.12899902C>G , CM000679.1:g.12899902C>G	GRCh37
NC_000017.9:g.12840627C>G	NCBI36
NG_015808.1:g.26480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1621G>C MANE Select	ENSP00000337445.4:p.Ala541Pro
ENST00000338034.8:c.1621G>C	ENSP00000337445.4:p.Ala541Pro
ENST00000395962.6:c.1564G>C	ENSP00000379291.1:p.Ala522Pro
ENST00000426905.7:c.1501G>C	ENSP00000405223.3:p.Ala501Pro
ENST00000465825.5:n.940G>C
ENST00000480891.5:n.1450G>C
ENST00000484122.5:n.1883G>C
ENST00000487229.6:n.1167G>C
ENST00000491478.5:n.198G>C
ENST00000492559.5:n.428G>C
ENST00000584650.5:c.1020G>C
NM_001165962.1:c.1501G>C	NP_001159434.1:p.Ala501Pro
NM_018127.6:c.1621G>C	NP_060597.4:p.Ala541Pro
NM_173717.1:c.1618G>C	NP_776065.1:p.Ala540Pro
XM_024450850.1:c.1702G>C	XP_024306618.1:p.Ala568Pro
XM_024450851.1:c.1702G>C	XP_024306619.1:p.Ala568Pro
XM_024450852.1:c.1621G>C	XP_024306620.1:p.Ala541Pro
XM_024450853.1:c.1618G>C	XP_024306621.1:p.Ala540Pro
XM_024450854.1:c.1582G>C	XP_024306622.1:p.Ala528Pro
XM_024450855.1:c.1501G>C	XP_024306623.1:p.Ala501Pro
XM_024450856.1:c.1420G>C	XP_024306624.1:p.Ala474Pro
XM_024450857.1:c.1420G>C	XP_024306625.1:p.Ala474Pro
XM_024450858.1:c.1339G>C	XP_024306626.1:p.Ala447Pro
XM_024450859.1:c.1336G>C	XP_024306627.1:p.Ala446Pro
XM_024450860.1:c.1339G>C	XP_024306628.1:p.Ala447Pro
XM_024450861.1:c.1339G>C	XP_024306629.1:p.Ala447Pro
XM_024450862.1:c.1336G>C	XP_024306630.1:p.Ala446Pro
NM_018127.7:c.1621G>C MANE Select	NP_060597.4:p.Ala541Pro
NM_001165962.2:c.1501G>C	NP_001159434.1:p.Ala501Pro
NM_173717.2:c.1618G>C	NP_776065.1:p.Ala540Pro