Canonical Allele Identifier: CA398222327

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992985-C-A
• MyVariant Identifiers: chr17:g.12896302C>A (hg19) ; chr17:g.12992985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992985C>A , CM000679.2:g.12992985C>A	GRCh38
NC_000017.10:g.12896302C>A , CM000679.1:g.12896302C>A	GRCh37
NC_000017.9:g.12837027C>A	NCBI36
NG_015808.1:g.30080G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2314G>T MANE Select	ENSP00000337445.4:p.Ala772Ser
ENST00000338034.8:c.2314G>T	ENSP00000337445.4:p.Ala772Ser
ENST00000395962.6:c.2257G>T	ENSP00000379291.1:p.Ala753Ser
ENST00000426905.7:c.2194G>T	ENSP00000405223.3:p.Ala732Ser
ENST00000465825.5:n.2201G>T
ENST00000480891.5:n.2143G>T
ENST00000484122.5:n.3144G>T
ENST00000487229.6:n.1860G>T
ENST00000584650.5:c.1713G>T
NM_001165962.1:c.2194G>T	NP_001159434.1:p.Ala732Ser
NM_018127.6:c.2314G>T	NP_060597.4:p.Ala772Ser
NM_173717.1:c.2311G>T	NP_776065.1:p.Ala771Ser
XM_024450850.1:c.2473G>T	XP_024306618.1:p.Ala825Ser
XM_024450851.1:c.2395G>T	XP_024306619.1:p.Ala799Ser
XM_024450852.1:c.2392G>T	XP_024306620.1:p.Ala798Ser
XM_024450853.1:c.2389G>T	XP_024306621.1:p.Ala797Ser
XM_024450854.1:c.2353G>T	XP_024306622.1:p.Ala785Ser
XM_024450855.1:c.2272G>T	XP_024306623.1:p.Ala758Ser
XM_024450856.1:c.2191G>T	XP_024306624.1:p.Ala731Ser
XM_024450857.1:c.2191G>T	XP_024306625.1:p.Ala731Ser
XM_024450858.1:c.2110G>T	XP_024306626.1:p.Ala704Ser
XM_024450859.1:c.2107G>T	XP_024306627.1:p.Ala703Ser
XM_024450860.1:c.2032G>T	XP_024306628.1:p.Ala678Ser
XM_024450861.1:c.2032G>T	XP_024306629.1:p.Ala678Ser
XM_024450862.1:c.2029G>T	XP_024306630.1:p.Ala677Ser
NM_018127.7:c.2314G>T MANE Select	NP_060597.4:p.Ala772Ser
NM_001165962.2:c.2194G>T	NP_001159434.1:p.Ala732Ser
NM_173717.2:c.2311G>T	NP_776065.1:p.Ala771Ser