Canonical Allele Identifier: CA398222071

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992855-G-A
• MyVariant Identifiers: chr17:g.12896172G>A (hg19) ; chr17:g.12992855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992855G>A , CM000679.2:g.12992855G>A	GRCh38
NC_000017.10:g.12896172G>A , CM000679.1:g.12896172G>A	GRCh37
NC_000017.9:g.12836897G>A	NCBI36
NG_015808.1:g.30210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2444C>T MANE Select	ENSP00000337445.4:p.Thr815Ile
ENST00000338034.8:c.2444C>T	ENSP00000337445.4:p.Thr815Ile
ENST00000395962.6:c.2387C>T	ENSP00000379291.1:p.Thr796Ile
ENST00000426905.7:c.2324C>T	ENSP00000405223.3:p.Thr775Ile
ENST00000465825.5:n.2331C>T
ENST00000480891.5:n.2273C>T
ENST00000484122.5:n.3274C>T
ENST00000487229.6:n.1990C>T
ENST00000584650.5:c.1843C>T
NM_001165962.1:c.2324C>T	NP_001159434.1:p.Thr775Ile
NM_018127.6:c.2444C>T	NP_060597.4:p.Thr815Ile
NM_173717.1:c.2441C>T	NP_776065.1:p.Thr814Ile
XM_024450850.1:c.2603C>T	XP_024306618.1:p.Thr868Ile
XM_024450851.1:c.2525C>T	XP_024306619.1:p.Thr842Ile
XM_024450852.1:c.2522C>T	XP_024306620.1:p.Thr841Ile
XM_024450853.1:c.2519C>T	XP_024306621.1:p.Thr840Ile
XM_024450854.1:c.2483C>T	XP_024306622.1:p.Thr828Ile
XM_024450855.1:c.2402C>T	XP_024306623.1:p.Thr801Ile
XM_024450856.1:c.2321C>T	XP_024306624.1:p.Thr774Ile
XM_024450857.1:c.2321C>T	XP_024306625.1:p.Thr774Ile
XM_024450858.1:c.2240C>T	XP_024306626.1:p.Thr747Ile
XM_024450859.1:c.2237C>T	XP_024306627.1:p.Thr746Ile
XM_024450860.1:c.2162C>T	XP_024306628.1:p.Thr721Ile
XM_024450861.1:c.2162C>T	XP_024306629.1:p.Thr721Ile
XM_024450862.1:c.2159C>T	XP_024306630.1:p.Thr720Ile
NM_018127.7:c.2444C>T MANE Select	NP_060597.4:p.Thr815Ile
NM_001165962.2:c.2324C>T	NP_001159434.1:p.Thr775Ile
NM_173717.2:c.2441C>T	NP_776065.1:p.Thr814Ile