Canonical Allele Identifier: CA392730199
Gene: CA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63345491G>A , CM000677.2:g.63345491G>A GRCh38
NC_000015.9:g.63637690G>A , CM000677.1:g.63637690G>A GRCh37
NC_000015.8:g.61424743G>A NCBI36
NG_028022.1:g.41386C>T
NG_028022.2:g.41676C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000178638.8:c.415C>T MANE Select ENSP00000178638.3:p.His139Tyr
ENST00000178638.7:c.415C>T ENSP00000178638.3:p.His139Tyr
ENST00000344366.7:c.415C>T ENSP00000343088.3:p.His139Tyr
ENST00000422263.2:c.235C>T ENSP00000403028.2:p.His79Tyr
NM_001218.4:c.415C>T NP_001209.1:p.His139Tyr
NM_001293642.1:c.235C>T NP_001280571.1:p.His79Tyr
NM_206925.2:c.415C>T NP_996808.1:p.His139Tyr
NR_135511.1:n.908C>T
NM_001218.5:c.415C>T MANE Select NP_001209.1:p.His139Tyr
NR_135511.2:n.588C>T
NM_001293642.2:c.235C>T NP_001280571.1:p.His79Tyr
NM_206925.3:c.415C>T NP_996808.1:p.His139Tyr