Canonical Allele Identifier: CA398222198

Gene: ELAC2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992919G>A , CM000679.2:g.12992919G>A	GRCh38
NC_000017.10:g.12896236G>A , CM000679.1:g.12896236G>A	GRCh37
NC_000017.9:g.12836961G>A	NCBI36
NG_015808.1:g.30146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2380C>T MANE Select	ENSP00000337445.4:p.Leu794Phe
ENST00000338034.8:c.2380C>T	ENSP00000337445.4:p.Leu794Phe
ENST00000395962.6:c.2323C>T	ENSP00000379291.1:p.Leu775Phe
ENST00000426905.7:c.2260C>T	ENSP00000405223.3:p.Leu754Phe
ENST00000465825.5:n.2267C>T
ENST00000480891.5:n.2209C>T
ENST00000484122.5:n.3210C>T
ENST00000487229.6:n.1926C>T
ENST00000584650.5:c.1779C>T
NM_001165962.1:c.2260C>T	NP_001159434.1:p.Leu754Phe
NM_018127.6:c.2380C>T	NP_060597.4:p.Leu794Phe
NM_173717.1:c.2377C>T	NP_776065.1:p.Leu793Phe
XM_024450850.1:c.2539C>T	XP_024306618.1:p.Leu847Phe
XM_024450851.1:c.2461C>T	XP_024306619.1:p.Leu821Phe
XM_024450852.1:c.2458C>T	XP_024306620.1:p.Leu820Phe
XM_024450853.1:c.2455C>T	XP_024306621.1:p.Leu819Phe
XM_024450854.1:c.2419C>T	XP_024306622.1:p.Leu807Phe
XM_024450855.1:c.2338C>T	XP_024306623.1:p.Leu780Phe
XM_024450856.1:c.2257C>T	XP_024306624.1:p.Leu753Phe
XM_024450857.1:c.2257C>T	XP_024306625.1:p.Leu753Phe
XM_024450858.1:c.2176C>T	XP_024306626.1:p.Leu726Phe
XM_024450859.1:c.2173C>T	XP_024306627.1:p.Leu725Phe
XM_024450860.1:c.2098C>T	XP_024306628.1:p.Leu700Phe
XM_024450861.1:c.2098C>T	XP_024306629.1:p.Leu700Phe
XM_024450862.1:c.2095C>T	XP_024306630.1:p.Leu699Phe
NM_018127.7:c.2380C>T MANE Select	NP_060597.4:p.Leu794Phe
NM_001165962.2:c.2260C>T	NP_001159434.1:p.Leu754Phe
NM_173717.2:c.2377C>T	NP_776065.1:p.Leu793Phe