Canonical Allele Identifier: CA8401330

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13002473T>C , CM000679.2:g.13002473T>C	GRCh38
NC_000017.10:g.12905790T>C , CM000679.1:g.12905790T>C	GRCh37
NC_000017.9:g.12846515T>C	NCBI36
NG_015808.1:g.20592A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018127.7:c.1186A>G MANE Select	NP_060597.4:p.Ile396Val
ENST00000338034.9:c.1186A>G MANE Select	ENSP00000337445.4:p.Ile396Val
NM_001165962.1:c.1066A>G	NP_001159434.1:p.Ile356Val
NM_001165962.2:c.1066A>G	NP_001159434.1:p.Ile356Val
NM_018127.6:c.1186A>G	NP_060597.4:p.Ile396Val
NM_173717.1:c.1186A>G	NP_776065.1:p.Ile396Val
NM_173717.2:c.1186A>G	NP_776065.1:p.Ile396Val
ENST00000338034.8:c.1186A>G	ENSP00000337445.4:p.Ile396Val
ENST00000395962.6:c.1129A>G	ENSP00000379291.1:p.Ile377Val
ENST00000426905.7:c.1066A>G	ENSP00000405223.3:p.Ile356Val
ENST00000446899.5:c.524A>G
ENST00000476042.1:c.212A>G
ENST00000480891.5:n.1015A>G
ENST00000484122.5:n.1448A>G
ENST00000487229.6:n.737A>G
ENST00000578104.1:n.415A>G
ENST00000578991.5:n.253A>G
ENST00000584650.5:c.585A>G
XM_024450850.1:c.1186A>G	XP_024306618.1:p.Ile396Val
XM_024450851.1:c.1186A>G	XP_024306619.1:p.Ile396Val
XM_024450852.1:c.1186A>G	XP_024306620.1:p.Ile396Val
XM_024450853.1:c.1186A>G	XP_024306621.1:p.Ile396Val
XM_024450854.1:c.1066A>G	XP_024306622.1:p.Ile356Val
XM_024450855.1:c.1066A>G	XP_024306623.1:p.Ile356Val
XM_024450856.1:c.904A>G	XP_024306624.1:p.Ile302Val
XM_024450857.1:c.904A>G	XP_024306625.1:p.Ile302Val
XM_024450858.1:c.904A>G	XP_024306626.1:p.Ile302Val
XM_024450859.1:c.904A>G	XP_024306627.1:p.Ile302Val
XM_024450860.1:c.904A>G	XP_024306628.1:p.Ile302Val
XM_024450861.1:c.904A>G	XP_024306629.1:p.Ile302Val
XM_024450862.1:c.904A>G	XP_024306630.1:p.Ile302Val