Canonical Allele Identifier: CA7602582

Gene: CA12

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63346588G>A , CM000677.2:g.63346588G>A	GRCh38
NC_000015.9:g.63638787G>A , CM000677.1:g.63638787G>A	GRCh37
NC_000015.8:g.61425840G>A	NCBI36
NG_028022.1:g.40289C>T
NG_028022.2:g.40579C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001218.5:c.228C>T MANE Select	NP_001209.1:p.Phe76=
ENST00000178638.8:c.228C>T MANE Select	ENSP00000178638.3:p.Phe76=
NM_001218.4:c.228C>T	NP_001209.1:p.Phe76=
NM_001293642.1:c.107-969C>T	NP_001280571.1:n.107-969C>T
NM_001293642.2:c.107-969C>T	NP_001280571.1:n.107-969C>T
NM_206925.2:c.228C>T	NP_996808.1:p.Phe76=
NM_206925.3:c.228C>T	NP_996808.1:p.Phe76=
NR_135511.1:n.674C>T
NR_135511.2:n.354C>T
ENST00000178638.7:c.228C>T	ENSP00000178638.3:p.Phe76=
ENST00000344366.7:c.228C>T	ENSP00000343088.3:p.Phe76=
ENST00000422263.2:c.107-969C>T	ENSP00000403028.2:n.107-969C>T