Canonical Allele Identifier: CA354452017

Gene: EFCAB12

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129401687G>A , CM000665.2:g.129401687G>A	GRCh38
NC_000003.11:g.129120530G>A , CM000665.1:g.129120530G>A	GRCh37
NC_000003.10:g.130603220G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_207307.3:c.1625C>T MANE Select	NP_997190.1:p.Ala542Val
ENST00000505956.6:c.1625C>T MANE Select	ENSP00000420854.1:p.Ala542Val
NM_207307.1:c.1625C>T	NP_997190.1:p.Ala542Val
NM_207307.2:c.1625C>T	NP_997190.1:p.Ala542Val
ENST00000326085.7:c.1625C>T	ENSP00000324241.3:p.Ala542Val
ENST00000503498.1:n.5246C>T
ENST00000505956.5:c.1625C>T	ENSP00000420854.1:p.Ala542Val
ENST00000514900.5:n.2884C>T
XM_011513293.1:c.1739C>T	XP_011511595.1:p.Ala580Val
XM_011513293.2:c.1739C>T	XP_011511595.1:p.Ala580Val
XM_011513294.1:c.1736C>T	XP_011511596.1:p.Ala579Val
XM_011513294.2:c.1736C>T	XP_011511596.1:p.Ala579Val
XM_011513295.1:c.1694C>T	XP_011511597.1:p.Ala565Val
XM_011513295.2:c.1694C>T	XP_011511597.1:p.Ala565Val
XM_011513296.1:c.*157C>T	XP_011511598.1:n.*157C>T
XM_011513297.1:c.*157C>T	XP_011511599.1:n.*157C>T
XM_011513297.2:c.*157C>T	XP_011511599.1:n.*157C>T
XM_011513298.1:c.884C>T	XP_011511600.1:p.Ala295Val
XM_011513299.1:c.863C>T	XP_011511601.1:p.Ala288Val
XM_011513299.2:c.863C>T	XP_011511601.1:p.Ala288Val