Canonical Allele Identifier: CA398222395

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993018-G-T
• MyVariant Identifiers: chr17:g.12896335G>T (hg19) ; chr17:g.12993018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993018G>T , CM000679.2:g.12993018G>T	GRCh38
NC_000017.10:g.12896335G>T , CM000679.1:g.12896335G>T	GRCh37
NC_000017.9:g.12837060G>T	NCBI36
NG_015808.1:g.30047C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2281C>A MANE Select	ENSP00000337445.4:p.Pro761Thr
ENST00000338034.8:c.2281C>A	ENSP00000337445.4:p.Pro761Thr
ENST00000395962.6:c.2224C>A	ENSP00000379291.1:p.Pro742Thr
ENST00000426905.7:c.2161C>A	ENSP00000405223.3:p.Pro721Thr
ENST00000465825.5:n.2168C>A
ENST00000480891.5:n.2110C>A
ENST00000484122.5:n.3111C>A
ENST00000487229.6:n.1827C>A
ENST00000584650.5:c.1680C>A
NM_001165962.1:c.2161C>A	NP_001159434.1:p.Pro721Thr
NM_018127.6:c.2281C>A	NP_060597.4:p.Pro761Thr
NM_173717.1:c.2278C>A	NP_776065.1:p.Pro760Thr
XM_024450850.1:c.2440C>A	XP_024306618.1:p.Pro814Thr
XM_024450851.1:c.2362C>A	XP_024306619.1:p.Pro788Thr
XM_024450852.1:c.2359C>A	XP_024306620.1:p.Pro787Thr
XM_024450853.1:c.2356C>A	XP_024306621.1:p.Pro786Thr
XM_024450854.1:c.2320C>A	XP_024306622.1:p.Pro774Thr
XM_024450855.1:c.2239C>A	XP_024306623.1:p.Pro747Thr
XM_024450856.1:c.2158C>A	XP_024306624.1:p.Pro720Thr
XM_024450857.1:c.2158C>A	XP_024306625.1:p.Pro720Thr
XM_024450858.1:c.2077C>A	XP_024306626.1:p.Pro693Thr
XM_024450859.1:c.2074C>A	XP_024306627.1:p.Pro692Thr
XM_024450860.1:c.1999C>A	XP_024306628.1:p.Pro667Thr
XM_024450861.1:c.1999C>A	XP_024306629.1:p.Pro667Thr
XM_024450862.1:c.1996C>A	XP_024306630.1:p.Pro666Thr
NM_018127.7:c.2281C>A MANE Select	NP_060597.4:p.Pro761Thr
NM_001165962.2:c.2161C>A	NP_001159434.1:p.Pro721Thr
NM_173717.2:c.2278C>A	NP_776065.1:p.Pro760Thr