Canonical Allele Identifier: CA398222079

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992858-T-C
• MyVariant Identifiers: chr17:g.12896175T>C (hg19) ; chr17:g.12992858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992858T>C , CM000679.2:g.12992858T>C	GRCh38
NC_000017.10:g.12896175T>C , CM000679.1:g.12896175T>C	GRCh37
NC_000017.9:g.12836900T>C	NCBI36
NG_015808.1:g.30207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2441A>G MANE Select	ENSP00000337445.4:p.His814Arg
ENST00000338034.8:c.2441A>G	ENSP00000337445.4:p.His814Arg
ENST00000395962.6:c.2384A>G	ENSP00000379291.1:p.His795Arg
ENST00000426905.7:c.2321A>G	ENSP00000405223.3:p.His774Arg
ENST00000465825.5:n.2328A>G
ENST00000480891.5:n.2270A>G
ENST00000484122.5:n.3271A>G
ENST00000487229.6:n.1987A>G
ENST00000584650.5:c.1840A>G
NM_001165962.1:c.2321A>G	NP_001159434.1:p.His774Arg
NM_018127.6:c.2441A>G	NP_060597.4:p.His814Arg
NM_173717.1:c.2438A>G	NP_776065.1:p.His813Arg
XM_024450850.1:c.2600A>G	XP_024306618.1:p.His867Arg
XM_024450851.1:c.2522A>G	XP_024306619.1:p.His841Arg
XM_024450852.1:c.2519A>G	XP_024306620.1:p.His840Arg
XM_024450853.1:c.2516A>G	XP_024306621.1:p.His839Arg
XM_024450854.1:c.2480A>G	XP_024306622.1:p.His827Arg
XM_024450855.1:c.2399A>G	XP_024306623.1:p.His800Arg
XM_024450856.1:c.2318A>G	XP_024306624.1:p.His773Arg
XM_024450857.1:c.2318A>G	XP_024306625.1:p.His773Arg
XM_024450858.1:c.2237A>G	XP_024306626.1:p.His746Arg
XM_024450859.1:c.2234A>G	XP_024306627.1:p.His745Arg
XM_024450860.1:c.2159A>G	XP_024306628.1:p.His720Arg
XM_024450861.1:c.2159A>G	XP_024306629.1:p.His720Arg
XM_024450862.1:c.2156A>G	XP_024306630.1:p.His719Arg
NM_018127.7:c.2441A>G MANE Select	NP_060597.4:p.His814Arg
NM_001165962.2:c.2321A>G	NP_001159434.1:p.His774Arg
NM_173717.2:c.2438A>G	NP_776065.1:p.His813Arg