Canonical Allele Identifier: CA232436455

Gene: C12orf57

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6944124G>A , CM000674.2:g.6944124G>A	GRCh38
NC_000012.11:g.7053287G>A , CM000674.1:g.7053287G>A	GRCh37
NC_000012.10:g.6923548G>A	NCBI36
NG_008047.1:g.24662G>A
NG_034262.1:g.5308G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138425.4:c.3G>A MANE Select	NP_612434.1:p.Met1Ile
ENST00000229281.6:c.3G>A MANE Select	ENSP00000229281.5:p.Met1Ile
NM_001301834.1:c.3G>A	NP_001288763.1:p.Met1Ile
NM_001301836.1:c.14-352G>A	NP_001288765.1:n.14-352G>A
NM_001301836.2:c.14-352G>A	NP_001288765.1:n.14-352G>A
NM_001301837.1:c.3G>A	NP_001288766.1:p.Met1Ile
NM_001301837.2:c.3G>A	NP_001288766.1:p.Met1Ile
NM_001301838.1:c.-199G>A	NP_001288767.1:n.-199G>A
NM_001301838.2:c.-199G>A	NP_001288767.1:n.-199G>A
NM_138425.3:c.3G>A	NP_612434.1:p.Met1Ile
NR_126035.1:n.308G>A
NR_126035.2:n.103G>A
ENST00000229281.5:c.3G>A	ENSP00000229281.5:p.Met1Ile
ENST00000537087.5:c.3G>A	ENSP00000440937.1:p.Met1Ile
ENST00000538392.1:n.389-352G>A
ENST00000540506.2:c.-199G>A	ENSP00000475635.1:n.-199G>A
ENST00000542222.1:n.231-352G>A
ENST00000544681.1:c.3G>A	ENSP00000475422.1:p.Met1Ile
ENST00000545581.5:c.3G>A	ENSP00000440602.1:p.Met1Ile