Canonical Allele Identifier: CA8400880

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993695G>A , CM000679.2:g.12993695G>A	GRCh38
NC_000017.10:g.12897012G>A , CM000679.1:g.12897012G>A	GRCh37
NC_000017.9:g.12837737G>A	NCBI36
NG_015808.1:g.29370C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018127.7:c.2245C>T MANE Select	NP_060597.4:p.His749Tyr
ENST00000338034.9:c.2245C>T MANE Select	ENSP00000337445.4:p.His749Tyr
NM_001165962.1:c.2125C>T	NP_001159434.1:p.His709Tyr
NM_001165962.2:c.2125C>T	NP_001159434.1:p.His709Tyr
NM_018127.6:c.2245C>T	NP_060597.4:p.His749Tyr
NM_173717.1:c.2242C>T	NP_776065.1:p.His748Tyr
NM_173717.2:c.2242C>T	NP_776065.1:p.His748Tyr
ENST00000338034.8:c.2245C>T	ENSP00000337445.4:p.His749Tyr
ENST00000395962.6:c.2188C>T	ENSP00000379291.1:p.His730Tyr
ENST00000426905.7:c.2125C>T	ENSP00000405223.3:p.His709Tyr
ENST00000465825.5:n.2132C>T
ENST00000480891.5:n.2074C>T
ENST00000484122.5:n.3075C>T
ENST00000487229.6:n.1791C>T
ENST00000584650.5:c.1644C>T
XM_024450850.1:c.2404C>T	XP_024306618.1:p.His802Tyr
XM_024450851.1:c.2326C>T	XP_024306619.1:p.His776Tyr
XM_024450852.1:c.2323C>T	XP_024306620.1:p.His775Tyr
XM_024450853.1:c.2320C>T	XP_024306621.1:p.His774Tyr
XM_024450854.1:c.2284C>T	XP_024306622.1:p.His762Tyr
XM_024450855.1:c.2203C>T	XP_024306623.1:p.His735Tyr
XM_024450856.1:c.2122C>T	XP_024306624.1:p.His708Tyr
XM_024450857.1:c.2122C>T	XP_024306625.1:p.His708Tyr
XM_024450858.1:c.2041C>T	XP_024306626.1:p.His681Tyr
XM_024450859.1:c.2038C>T	XP_024306627.1:p.His680Tyr
XM_024450860.1:c.1963C>T	XP_024306628.1:p.His655Tyr
XM_024450861.1:c.1963C>T	XP_024306629.1:p.His655Tyr
XM_024450862.1:c.1960C>T	XP_024306630.1:p.His654Tyr