Canonical Allele Identifier: CA398222393

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993017-G-T
• MyVariant Identifiers: chr17:g.12896334G>T (hg19) ; chr17:g.12993017G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993017G>T , CM000679.2:g.12993017G>T	GRCh38
NC_000017.10:g.12896334G>T , CM000679.1:g.12896334G>T	GRCh37
NC_000017.9:g.12837059G>T	NCBI36
NG_015808.1:g.30048C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2282C>A MANE Select	ENSP00000337445.4:p.Pro761His
ENST00000338034.8:c.2282C>A	ENSP00000337445.4:p.Pro761His
ENST00000395962.6:c.2225C>A	ENSP00000379291.1:p.Pro742His
ENST00000426905.7:c.2162C>A	ENSP00000405223.3:p.Pro721His
ENST00000465825.5:n.2169C>A
ENST00000480891.5:n.2111C>A
ENST00000484122.5:n.3112C>A
ENST00000487229.6:n.1828C>A
ENST00000584650.5:c.1681C>A
NM_001165962.1:c.2162C>A	NP_001159434.1:p.Pro721His
NM_018127.6:c.2282C>A	NP_060597.4:p.Pro761His
NM_173717.1:c.2279C>A	NP_776065.1:p.Pro760His
XM_024450850.1:c.2441C>A	XP_024306618.1:p.Pro814His
XM_024450851.1:c.2363C>A	XP_024306619.1:p.Pro788His
XM_024450852.1:c.2360C>A	XP_024306620.1:p.Pro787His
XM_024450853.1:c.2357C>A	XP_024306621.1:p.Pro786His
XM_024450854.1:c.2321C>A	XP_024306622.1:p.Pro774His
XM_024450855.1:c.2240C>A	XP_024306623.1:p.Pro747His
XM_024450856.1:c.2159C>A	XP_024306624.1:p.Pro720His
XM_024450857.1:c.2159C>A	XP_024306625.1:p.Pro720His
XM_024450858.1:c.2078C>A	XP_024306626.1:p.Pro693His
XM_024450859.1:c.2075C>A	XP_024306627.1:p.Pro692His
XM_024450860.1:c.2000C>A	XP_024306628.1:p.Pro667His
XM_024450861.1:c.2000C>A	XP_024306629.1:p.Pro667His
XM_024450862.1:c.1997C>A	XP_024306630.1:p.Pro666His
NM_018127.7:c.2282C>A MANE Select	NP_060597.4:p.Pro761His
NM_001165962.2:c.2162C>A	NP_001159434.1:p.Pro721His
NM_173717.2:c.2279C>A	NP_776065.1:p.Pro760His