Canonical Allele Identifier: CA495128821
Gene: ABCC12 HGNC NCBI

Linked Data

dbSNP Id: rs1964998735
MyVariant Identifiers: chr16:g.48180218T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.48146307T>G , CM000678.2:g.48146307T>G GRCh38
NC_000016.9:g.48180218T>G , CM000678.1:g.48180218T>G GRCh37
NC_000016.8:g.46737719T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000311303.8:c.118A>C MANE Select ENSP00000311030.4:p.Arg40=
ENST00000528693.6:c.118A>C ENSP00000510388.1:p.Arg40=
ENST00000532494.6:n.464A>C
ENST00000311303.7:c.118A>C ENSP00000311030.3:p.Arg40=
ENST00000497206.6:c.118A>C ENSP00000431232.1:p.Arg40=
ENST00000527640.1:c.118A>C ENSP00000436647.1:p.Arg40=
ENST00000528693.5:n.321A>C
ENST00000529084.5:c.118A>C ENSP00000434510.1:p.Arg40=
ENST00000529504.5:c.118A>C ENSP00000433333.1:p.Arg40=
ENST00000532494.5:c.118A>C ENSP00000437047.1:p.Arg40=
ENST00000533639.5:c.118A>C ENSP00000435715.1:p.Arg40=
ENST00000534418.5:c.118A>C ENSP00000431354.1:p.Arg40=
NM_033226.2:c.118A>C NP_150229.2:p.Arg40=
NM_001392028.1:c.118A>C NP_001378957.1:p.Arg40=
NM_001393797.1:c.118A>C MANE Select NP_001380726.1:p.Arg40=
NM_033226.3:c.118A>C NP_150229.2:p.Arg40=
NR_171628.1:n.590A>C
NR_171629.1:n.168A>C
NR_171630.1:n.168A>C
NR_171631.1:n.168A>C
NR_171632.1:n.168A>C
NR_171633.1:n.168A>C