Canonical Allele Identifier: CA398222371

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993006-G-T
• MyVariant Identifiers: chr17:g.12896323G>T (hg19) ; chr17:g.12993006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993006G>T , CM000679.2:g.12993006G>T	GRCh38
NC_000017.10:g.12896323G>T , CM000679.1:g.12896323G>T	GRCh37
NC_000017.9:g.12837048G>T	NCBI36
NG_015808.1:g.30059C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2293C>A MANE Select	ENSP00000337445.4:p.Pro765Thr
ENST00000338034.8:c.2293C>A	ENSP00000337445.4:p.Pro765Thr
ENST00000395962.6:c.2236C>A	ENSP00000379291.1:p.Pro746Thr
ENST00000426905.7:c.2173C>A	ENSP00000405223.3:p.Pro725Thr
ENST00000465825.5:n.2180C>A
ENST00000480891.5:n.2122C>A
ENST00000484122.5:n.3123C>A
ENST00000487229.6:n.1839C>A
ENST00000584650.5:c.1692C>A
NM_001165962.1:c.2173C>A	NP_001159434.1:p.Pro725Thr
NM_018127.6:c.2293C>A	NP_060597.4:p.Pro765Thr
NM_173717.1:c.2290C>A	NP_776065.1:p.Pro764Thr
XM_024450850.1:c.2452C>A	XP_024306618.1:p.Pro818Thr
XM_024450851.1:c.2374C>A	XP_024306619.1:p.Pro792Thr
XM_024450852.1:c.2371C>A	XP_024306620.1:p.Pro791Thr
XM_024450853.1:c.2368C>A	XP_024306621.1:p.Pro790Thr
XM_024450854.1:c.2332C>A	XP_024306622.1:p.Pro778Thr
XM_024450855.1:c.2251C>A	XP_024306623.1:p.Pro751Thr
XM_024450856.1:c.2170C>A	XP_024306624.1:p.Pro724Thr
XM_024450857.1:c.2170C>A	XP_024306625.1:p.Pro724Thr
XM_024450858.1:c.2089C>A	XP_024306626.1:p.Pro697Thr
XM_024450859.1:c.2086C>A	XP_024306627.1:p.Pro696Thr
XM_024450860.1:c.2011C>A	XP_024306628.1:p.Pro671Thr
XM_024450861.1:c.2011C>A	XP_024306629.1:p.Pro671Thr
XM_024450862.1:c.2008C>A	XP_024306630.1:p.Pro670Thr
NM_018127.7:c.2293C>A MANE Select	NP_060597.4:p.Pro765Thr
NM_001165962.2:c.2173C>A	NP_001159434.1:p.Pro725Thr
NM_173717.2:c.2290C>A	NP_776065.1:p.Pro764Thr