Canonical Allele Identifier: CA478175975
Community Standard Title: NM_138425.4(C12orf57):c.52+12C>G
Gene: C12orf57 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6944185C>G , CM000674.2:g.6944185C>G GRCh38
NC_000012.11:g.7053348C>G , CM000674.1:g.7053348C>G GRCh37
NC_000012.10:g.6923609C>G NCBI36
NG_008047.1:g.24723C>G
NG_034262.1:g.5369C>G

Transcript Alleles

HGVS Amino-acid Change
NM_138425.4:c.52+12C>G MANE Select NP_612434.1:n.52+12C>G
ENST00000229281.6:c.52+12C>G MANE Select ENSP00000229281.5:n.52+12C>G
NM_001301834.1:c.52+12C>G NP_001288763.1:n.52+12C>G
NM_001301836.1:c.14-291C>G NP_001288765.1:n.14-291C>G
NM_001301836.2:c.14-291C>G NP_001288765.1:n.14-291C>G
NM_001301837.1:c.52+12C>G NP_001288766.1:n.52+12C>G
NM_001301837.2:c.52+12C>G NP_001288766.1:n.52+12C>G
NM_001301838.1:c.-150+12C>G NP_001288767.1:n.-150+12C>G
NM_001301838.2:c.-150+12C>G NP_001288767.1:n.-150+12C>G
NM_138425.3:c.52+12C>G NP_612434.1:n.52+12C>G
NR_126035.1:n.357+12C>G
NR_126035.2:n.152+12C>G
ENST00000229281.5:c.52+12C>G ENSP00000229281.5:n.52+12C>G
ENST00000537087.5:c.52+12C>G ENSP00000440937.1:n.52+12C>G
ENST00000538392.1:n.389-291C>G
ENST00000540506.2:c.-150+12C>G ENSP00000475635.1:n.-150+12C>G
ENST00000542222.1:n.231-291C>G
ENST00000544681.1:c.52+12C>G ENSP00000475422.1:n.52+12C>G
ENST00000545581.5:c.52+12C>G ENSP00000440602.1:n.52+12C>G