Canonical Allele Identifier: CA398223903

Gene: ELAC2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1621G>T MANE Select	ENSP00000337445.4:p.Ala541Ser
ENST00000338034.8:c.1621G>T	ENSP00000337445.4:p.Ala541Ser
ENST00000395962.6:c.1564G>T	ENSP00000379291.1:p.Ala522Ser
ENST00000426905.7:c.1501G>T	ENSP00000405223.3:p.Ala501Ser
ENST00000465825.5:n.940G>T
ENST00000480891.5:n.1450G>T
ENST00000484122.5:n.1883G>T
ENST00000487229.6:n.1167G>T
ENST00000491478.5:n.198G>T
ENST00000492559.5:n.428G>T
ENST00000584650.5:c.1020G>T
NM_001165962.1:c.1501G>T	NP_001159434.1:p.Ala501Ser
NM_018127.6:c.1621G>T	NP_060597.4:p.Ala541Ser
NM_173717.1:c.1618G>T	NP_776065.1:p.Ala540Ser
XM_024450850.1:c.1702G>T	XP_024306618.1:p.Ala568Ser
XM_024450851.1:c.1702G>T	XP_024306619.1:p.Ala568Ser
XM_024450852.1:c.1621G>T	XP_024306620.1:p.Ala541Ser
XM_024450853.1:c.1618G>T	XP_024306621.1:p.Ala540Ser
XM_024450854.1:c.1582G>T	XP_024306622.1:p.Ala528Ser
XM_024450855.1:c.1501G>T	XP_024306623.1:p.Ala501Ser
XM_024450856.1:c.1420G>T	XP_024306624.1:p.Ala474Ser
XM_024450857.1:c.1420G>T	XP_024306625.1:p.Ala474Ser
XM_024450858.1:c.1339G>T	XP_024306626.1:p.Ala447Ser
XM_024450859.1:c.1336G>T	XP_024306627.1:p.Ala446Ser
XM_024450860.1:c.1339G>T	XP_024306628.1:p.Ala447Ser
XM_024450861.1:c.1339G>T	XP_024306629.1:p.Ala447Ser
XM_024450862.1:c.1336G>T	XP_024306630.1:p.Ala446Ser
NM_018127.7:c.1621G>T MANE Select	NP_060597.4:p.Ala541Ser
NM_001165962.2:c.1501G>T	NP_001159434.1:p.Ala501Ser
NM_173717.2:c.1618G>T	NP_776065.1:p.Ala540Ser