Canonical Allele Identifier: CA398222213

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992930-A-G
• MyVariant Identifiers: chr17:g.12896247A>G (hg19) ; chr17:g.12992930A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992930A>G , CM000679.2:g.12992930A>G	GRCh38
NC_000017.10:g.12896247A>G , CM000679.1:g.12896247A>G	GRCh37
NC_000017.9:g.12836972A>G	NCBI36
NG_015808.1:g.30135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2369T>C MANE Select	ENSP00000337445.4:p.Val790Ala
ENST00000338034.8:c.2369T>C	ENSP00000337445.4:p.Val790Ala
ENST00000395962.6:c.2312T>C	ENSP00000379291.1:p.Val771Ala
ENST00000426905.7:c.2249T>C	ENSP00000405223.3:p.Val750Ala
ENST00000465825.5:n.2256T>C
ENST00000480891.5:n.2198T>C
ENST00000484122.5:n.3199T>C
ENST00000487229.6:n.1915T>C
ENST00000584650.5:c.1768T>C
NM_001165962.1:c.2249T>C	NP_001159434.1:p.Val750Ala
NM_018127.6:c.2369T>C	NP_060597.4:p.Val790Ala
NM_173717.1:c.2366T>C	NP_776065.1:p.Val789Ala
XM_024450850.1:c.2528T>C	XP_024306618.1:p.Val843Ala
XM_024450851.1:c.2450T>C	XP_024306619.1:p.Val817Ala
XM_024450852.1:c.2447T>C	XP_024306620.1:p.Val816Ala
XM_024450853.1:c.2444T>C	XP_024306621.1:p.Val815Ala
XM_024450854.1:c.2408T>C	XP_024306622.1:p.Val803Ala
XM_024450855.1:c.2327T>C	XP_024306623.1:p.Val776Ala
XM_024450856.1:c.2246T>C	XP_024306624.1:p.Val749Ala
XM_024450857.1:c.2246T>C	XP_024306625.1:p.Val749Ala
XM_024450858.1:c.2165T>C	XP_024306626.1:p.Val722Ala
XM_024450859.1:c.2162T>C	XP_024306627.1:p.Val721Ala
XM_024450860.1:c.2087T>C	XP_024306628.1:p.Val696Ala
XM_024450861.1:c.2087T>C	XP_024306629.1:p.Val696Ala
XM_024450862.1:c.2084T>C	XP_024306630.1:p.Val695Ala
NM_018127.7:c.2369T>C MANE Select	NP_060597.4:p.Val790Ala
NM_001165962.2:c.2249T>C	NP_001159434.1:p.Val750Ala
NM_173717.2:c.2366T>C	NP_776065.1:p.Val789Ala