Canonical Allele Identifier: CA383744598

Gene: C12orf57

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6944577C>T , CM000674.2:g.6944577C>T	GRCh38
NC_000012.11:g.7053740C>T , CM000674.1:g.7053740C>T	GRCh37
NC_000012.10:g.6924001C>T	NCBI36
NG_034262.1:g.5761C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138425.4:c.154C>T MANE Select	NP_612434.1:p.Gln52Ter
ENST00000229281.6:c.154C>T MANE Select	ENSP00000229281.5:p.Gln52Ter
NM_001301834.1:c.154C>T	NP_001288763.1:p.Gln52Ter
NM_001301836.1:c.115C>T	NP_001288765.1:p.Gln39Ter
NM_001301836.2:c.115C>T	NP_001288765.1:p.Gln39Ter
NM_001301837.1:c.142+12C>T	NP_001288766.1:n.142+12C>T
NM_001301837.2:c.142+12C>T	NP_001288766.1:n.142+12C>T
NM_001301838.1:c.49C>T	NP_001288767.1:p.Gln17Ter
NM_001301838.2:c.49C>T	NP_001288767.1:p.Gln17Ter
NM_138425.3:c.154C>T	NP_612434.1:p.Gln52Ter
NR_126035.1:n.543+12C>T
NR_126035.2:n.338+12C>T
ENST00000229281.5:c.154C>T	ENSP00000229281.5:p.Gln52Ter
ENST00000537087.5:c.142+12C>T	ENSP00000440937.1:n.142+12C>T
ENST00000538392.1:n.490C>T
ENST00000540506.2:c.49C>T	ENSP00000475635.1:p.Gln17Ter
ENST00000542222.1:n.332C>T
ENST00000544681.1:c.154C>T	ENSP00000475422.1:p.Gln52Ter
ENST00000545581.5:c.154C>T	ENSP00000440602.1:p.Gln52Ter