Canonical Allele Identifier: CA398222412

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993027-G-T
• MyVariant Identifiers: chr17:g.12896344G>T (hg19) ; chr17:g.12993027G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993027G>T , CM000679.2:g.12993027G>T	GRCh38
NC_000017.10:g.12896344G>T , CM000679.1:g.12896344G>T	GRCh37
NC_000017.9:g.12837069G>T	NCBI36
NG_015808.1:g.30038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2272C>A MANE Select	ENSP00000337445.4:p.Pro758Thr
ENST00000338034.8:c.2272C>A	ENSP00000337445.4:p.Pro758Thr
ENST00000395962.6:c.2215C>A	ENSP00000379291.1:p.Pro739Thr
ENST00000426905.7:c.2152C>A	ENSP00000405223.3:p.Pro718Thr
ENST00000465825.5:n.2159C>A
ENST00000480891.5:n.2101C>A
ENST00000484122.5:n.3102C>A
ENST00000487229.6:n.1818C>A
ENST00000584650.5:c.1671C>A
NM_001165962.1:c.2152C>A	NP_001159434.1:p.Pro718Thr
NM_018127.6:c.2272C>A	NP_060597.4:p.Pro758Thr
NM_173717.1:c.2269C>A	NP_776065.1:p.Pro757Thr
XM_024450850.1:c.2431C>A	XP_024306618.1:p.Pro811Thr
XM_024450851.1:c.2353C>A	XP_024306619.1:p.Pro785Thr
XM_024450852.1:c.2350C>A	XP_024306620.1:p.Pro784Thr
XM_024450853.1:c.2347C>A	XP_024306621.1:p.Pro783Thr
XM_024450854.1:c.2311C>A	XP_024306622.1:p.Pro771Thr
XM_024450855.1:c.2230C>A	XP_024306623.1:p.Pro744Thr
XM_024450856.1:c.2149C>A	XP_024306624.1:p.Pro717Thr
XM_024450857.1:c.2149C>A	XP_024306625.1:p.Pro717Thr
XM_024450858.1:c.2068C>A	XP_024306626.1:p.Pro690Thr
XM_024450859.1:c.2065C>A	XP_024306627.1:p.Pro689Thr
XM_024450860.1:c.1990C>A	XP_024306628.1:p.Pro664Thr
XM_024450861.1:c.1990C>A	XP_024306629.1:p.Pro664Thr
XM_024450862.1:c.1987C>A	XP_024306630.1:p.Pro663Thr
NM_018127.7:c.2272C>A MANE Select	NP_060597.4:p.Pro758Thr
NM_001165962.2:c.2152C>A	NP_001159434.1:p.Pro718Thr
NM_173717.2:c.2269C>A	NP_776065.1:p.Pro757Thr