Canonical Allele Identifier: CA392730182

Gene: CA12

Linked Data

• gnomAD v4: 15-63345484-G-A
• MyVariant Identifiers: chr15:g.63637683G>A (hg19) ; chr15:g.63345484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63345484G>A , CM000677.2:g.63345484G>A	GRCh38
NC_000015.9:g.63637683G>A , CM000677.1:g.63637683G>A	GRCh37
NC_000015.8:g.61424736G>A	NCBI36
NG_028022.1:g.41393C>T
NG_028022.2:g.41683C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000178638.8:c.422C>T MANE Select	ENSP00000178638.3:p.Ala141Val
ENST00000178638.7:c.422C>T	ENSP00000178638.3:p.Ala141Val
ENST00000344366.7:c.422C>T	ENSP00000343088.3:p.Ala141Val
ENST00000422263.2:c.242C>T	ENSP00000403028.2:p.Ala81Val
NM_001218.4:c.422C>T	NP_001209.1:p.Ala141Val
NM_001293642.1:c.242C>T	NP_001280571.1:p.Ala81Val
NM_206925.2:c.422C>T	NP_996808.1:p.Ala141Val
NR_135511.1:n.915C>T
NM_001218.5:c.422C>T MANE Select	NP_001209.1:p.Ala141Val
NR_135511.2:n.595C>T
NM_001293642.2:c.242C>T	NP_001280571.1:p.Ala81Val
NM_206925.3:c.422C>T	NP_996808.1:p.Ala141Val