Canonical Allele Identifier: CA398222423

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993032-T-A
• MyVariant Identifiers: chr17:g.12896349T>A (hg19) ; chr17:g.12993032T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993032T>A , CM000679.2:g.12993032T>A	GRCh38
NC_000017.10:g.12896349T>A , CM000679.1:g.12896349T>A	GRCh37
NC_000017.9:g.12837074T>A	NCBI36
NG_015808.1:g.30033A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2267A>T MANE Select	ENSP00000337445.4:p.Asp756Val
ENST00000338034.8:c.2267A>T	ENSP00000337445.4:p.Asp756Val
ENST00000395962.6:c.2210A>T	ENSP00000379291.1:p.Asp737Val
ENST00000426905.7:c.2147A>T	ENSP00000405223.3:p.Asp716Val
ENST00000465825.5:n.2154A>T
ENST00000480891.5:n.2096A>T
ENST00000484122.5:n.3097A>T
ENST00000487229.6:n.1813A>T
ENST00000584650.5:c.1666A>T
NM_001165962.1:c.2147A>T	NP_001159434.1:p.Asp716Val
NM_018127.6:c.2267A>T	NP_060597.4:p.Asp756Val
NM_173717.1:c.2264A>T	NP_776065.1:p.Asp755Val
XM_024450850.1:c.2426A>T	XP_024306618.1:p.Asp809Val
XM_024450851.1:c.2348A>T	XP_024306619.1:p.Asp783Val
XM_024450852.1:c.2345A>T	XP_024306620.1:p.Asp782Val
XM_024450853.1:c.2342A>T	XP_024306621.1:p.Asp781Val
XM_024450854.1:c.2306A>T	XP_024306622.1:p.Asp769Val
XM_024450855.1:c.2225A>T	XP_024306623.1:p.Asp742Val
XM_024450856.1:c.2144A>T	XP_024306624.1:p.Asp715Val
XM_024450857.1:c.2144A>T	XP_024306625.1:p.Asp715Val
XM_024450858.1:c.2063A>T	XP_024306626.1:p.Asp688Val
XM_024450859.1:c.2060A>T	XP_024306627.1:p.Asp687Val
XM_024450860.1:c.1985A>T	XP_024306628.1:p.Asp662Val
XM_024450861.1:c.1985A>T	XP_024306629.1:p.Asp662Val
XM_024450862.1:c.1982A>T	XP_024306630.1:p.Asp661Val
NM_018127.7:c.2267A>T MANE Select	NP_060597.4:p.Asp756Val
NM_001165962.2:c.2147A>T	NP_001159434.1:p.Asp716Val
NM_173717.2:c.2264A>T	NP_776065.1:p.Asp755Val