Canonical Allele Identifier: CA2248386511

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12996565C= , CM000679.2:g.12996565C=	GRCh38
NC_000017.10:g.12899882C= , CM000679.1:g.12899882C=	GRCh37
NC_000017.9:g.12840607C=	NCBI36
NG_015808.1:g.26500G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1641G= MANE Select	ENSP00000337445.4:p.Leu547=
ENST00000338034.8:c.1641G=	ENSP00000337445.4:p.Leu547=
ENST00000395962.6:c.1584G=	ENSP00000379291.1:p.Leu528=
ENST00000426905.7:c.1521G=	ENSP00000405223.3:p.Leu507=
ENST00000465825.5:n.960G=
ENST00000480891.5:n.1470G=
ENST00000484122.5:n.1903G=
ENST00000487229.6:n.1187G=
ENST00000491478.5:n.218G=
ENST00000492559.5:n.448G=
ENST00000584650.5:c.1040G=
NM_001165962.1:c.1521G=	NP_001159434.1:p.Leu507=
NM_018127.6:c.1641G=	NP_060597.4:p.Leu547=
NM_173717.1:c.1638G=	NP_776065.1:p.Leu546=
XM_024450850.1:c.1722G=	XP_024306618.1:p.Leu574=
XM_024450851.1:c.1722G=	XP_024306619.1:p.Leu574=
XM_024450852.1:c.1641G=	XP_024306620.1:p.Leu547=
XM_024450853.1:c.1638G=	XP_024306621.1:p.Leu546=
XM_024450854.1:c.1602G=	XP_024306622.1:p.Leu534=
XM_024450855.1:c.1521G=	XP_024306623.1:p.Leu507=
XM_024450856.1:c.1440G=	XP_024306624.1:p.Leu480=
XM_024450857.1:c.1440G=	XP_024306625.1:p.Leu480=
XM_024450858.1:c.1359G=	XP_024306626.1:p.Leu453=
XM_024450859.1:c.1356G=	XP_024306627.1:p.Leu452=
XM_024450860.1:c.1359G=	XP_024306628.1:p.Leu453=
XM_024450861.1:c.1359G=	XP_024306629.1:p.Leu453=
XM_024450862.1:c.1356G=	XP_024306630.1:p.Leu452=
NM_018127.7:c.1641G= MANE Select	NP_060597.4:p.Leu547=
NM_001165962.2:c.1521G=	NP_001159434.1:p.Leu507=
NM_173717.2:c.1638G=	NP_776065.1:p.Leu546=