Canonical Allele Identifier: CA398222365

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993003-G-T
• MyVariant Identifiers: chr17:g.12896320G>T (hg19) ; chr17:g.12993003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993003G>T , CM000679.2:g.12993003G>T	GRCh38
NC_000017.10:g.12896320G>T , CM000679.1:g.12896320G>T	GRCh37
NC_000017.9:g.12837045G>T	NCBI36
NG_015808.1:g.30062C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2296C>A MANE Select	ENSP00000337445.4:p.Pro766Thr
ENST00000338034.8:c.2296C>A	ENSP00000337445.4:p.Pro766Thr
ENST00000395962.6:c.2239C>A	ENSP00000379291.1:p.Pro747Thr
ENST00000426905.7:c.2176C>A	ENSP00000405223.3:p.Pro726Thr
ENST00000465825.5:n.2183C>A
ENST00000480891.5:n.2125C>A
ENST00000484122.5:n.3126C>A
ENST00000487229.6:n.1842C>A
ENST00000584650.5:c.1695C>A
NM_001165962.1:c.2176C>A	NP_001159434.1:p.Pro726Thr
NM_018127.6:c.2296C>A	NP_060597.4:p.Pro766Thr
NM_173717.1:c.2293C>A	NP_776065.1:p.Pro765Thr
XM_024450850.1:c.2455C>A	XP_024306618.1:p.Pro819Thr
XM_024450851.1:c.2377C>A	XP_024306619.1:p.Pro793Thr
XM_024450852.1:c.2374C>A	XP_024306620.1:p.Pro792Thr
XM_024450853.1:c.2371C>A	XP_024306621.1:p.Pro791Thr
XM_024450854.1:c.2335C>A	XP_024306622.1:p.Pro779Thr
XM_024450855.1:c.2254C>A	XP_024306623.1:p.Pro752Thr
XM_024450856.1:c.2173C>A	XP_024306624.1:p.Pro725Thr
XM_024450857.1:c.2173C>A	XP_024306625.1:p.Pro725Thr
XM_024450858.1:c.2092C>A	XP_024306626.1:p.Pro698Thr
XM_024450859.1:c.2089C>A	XP_024306627.1:p.Pro697Thr
XM_024450860.1:c.2014C>A	XP_024306628.1:p.Pro672Thr
XM_024450861.1:c.2014C>A	XP_024306629.1:p.Pro672Thr
XM_024450862.1:c.2011C>A	XP_024306630.1:p.Pro671Thr
NM_018127.7:c.2296C>A MANE Select	NP_060597.4:p.Pro766Thr
NM_001165962.2:c.2176C>A	NP_001159434.1:p.Pro726Thr
NM_173717.2:c.2293C>A	NP_776065.1:p.Pro765Thr