Canonical Allele Identifier: CA13677260

Gene: C12orf43

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121004867T>C , CM000674.2:g.121004867T>C	GRCh38
NC_000012.11:g.121442670T>C , CM000674.1:g.121442670T>C	GRCh37
NC_000012.10:g.119927053T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288757.7:c.452+136A>G MANE Select	ENSP00000288757.5:n.452+136A>G
ENST00000445832.7:c.326+136A>G	ENSP00000409788.3:n.326+136A>G
ENST00000502891.6:n.1000+136A>G
ENST00000535367.1:c.314+136A>G	ENSP00000438856.1:n.314+136A>G
ENST00000537817.5:c.545+136A>G	ENSP00000442224.2:n.545+136A>G
ENST00000538296.5:c.308+136A>G	ENSP00000442041.2:n.308+136A>G
ENST00000539736.5:c.419+136A>G	ENSP00000437803.1:n.419+136A>G
ENST00000546272.5:c.*508+136A>G	ENSP00000443642.2:n.*508+136A>G
NM_001286191.1:c.545+136A>G	NP_001273120.1:n.545+136A>G
NM_001286192.1:c.452+136A>G	NP_001273121.1:n.452+136A>G
NM_001286195.1:c.419+136A>G	NP_001273124.1:n.419+136A>G
NM_001286196.1:c.419+136A>G	NP_001273125.1:n.419+136A>G
NM_001286197.1:c.353+136A>G	NP_001273126.1:n.353+136A>G
NM_001286198.1:c.326+136A>G	NP_001273127.1:n.326+136A>G
NM_022895.2:c.452+136A>G	NP_075046.1:n.452+136A>G
NR_104409.1:n.490+136A>G
XM_011538684.1:c.314+136A>G	XP_011536986.1:n.314+136A>G
XM_017019829.2:c.326+136A>G	XP_016875318.1:n.326+136A>G
NM_001286191.2:c.545+136A>G	NP_001273120.1:n.545+136A>G
NM_001286192.2:c.452+136A>G	NP_001273121.1:n.452+136A>G
NM_001286195.2:c.419+136A>G	NP_001273124.1:n.419+136A>G
NM_001286196.2:c.419+136A>G	NP_001273125.1:n.419+136A>G
NM_001286197.2:c.353+136A>G	NP_001273126.1:n.353+136A>G
NM_001286198.2:c.326+136A>G	NP_001273127.1:n.326+136A>G
NM_022895.3:c.452+136A>G MANE Select	NP_075046.1:n.452+136A>G
NR_104409.2:n.475+136A>G