Canonical Allele Identifier: CA8401109

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12995946G>A , CM000679.2:g.12995946G>A	GRCh38
NC_000017.10:g.12899263G>A , CM000679.1:g.12899263G>A	GRCh37
NC_000017.9:g.12839988G>A	NCBI36
NG_015808.1:g.27119C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018127.7:c.1692C>T MANE Select	NP_060597.4:p.Arg564=
ENST00000338034.9:c.1692C>T MANE Select	ENSP00000337445.4:p.Arg564=
NM_001165962.1:c.1572C>T	NP_001159434.1:p.Arg524=
NM_001165962.2:c.1572C>T	NP_001159434.1:p.Arg524=
NM_018127.6:c.1692C>T	NP_060597.4:p.Arg564=
NM_173717.1:c.1689C>T	NP_776065.1:p.Arg563=
NM_173717.2:c.1689C>T	NP_776065.1:p.Arg563=
ENST00000338034.8:c.1692C>T	ENSP00000337445.4:p.Arg564=
ENST00000395962.6:c.1635C>T	ENSP00000379291.1:p.Arg545=
ENST00000426905.7:c.1572C>T	ENSP00000405223.3:p.Arg524=
ENST00000465825.5:n.1579C>T
ENST00000480891.5:n.1521C>T
ENST00000484122.5:n.2522C>T
ENST00000487229.6:n.1238C>T
ENST00000491478.5:n.269C>T
ENST00000492559.5:n.499C>T
ENST00000584650.5:c.1091C>T
XM_024450850.1:c.1773C>T	XP_024306618.1:p.Arg591=
XM_024450851.1:c.1773C>T	XP_024306619.1:p.Arg591=
XM_024450852.1:c.1692C>T	XP_024306620.1:p.Arg564=
XM_024450853.1:c.1689C>T	XP_024306621.1:p.Arg563=
XM_024450854.1:c.1653C>T	XP_024306622.1:p.Arg551=
XM_024450855.1:c.1572C>T	XP_024306623.1:p.Arg524=
XM_024450856.1:c.1491C>T	XP_024306624.1:p.Arg497=
XM_024450857.1:c.1491C>T	XP_024306625.1:p.Arg497=
XM_024450858.1:c.1410C>T	XP_024306626.1:p.Arg470=
XM_024450859.1:c.1407C>T	XP_024306627.1:p.Arg469=
XM_024450860.1:c.1410C>T	XP_024306628.1:p.Arg470=
XM_024450861.1:c.1410C>T	XP_024306629.1:p.Arg470=
XM_024450862.1:c.1407C>T	XP_024306630.1:p.Arg469=