Canonical Allele Identifier: CA12628697

Gene: MACC1

Linked Data

• dbSNP Id: rs1990172
• gnomAD v2: 7-20204135-A-C
• gnomAD v3: 7-20164512-A-C
• gnomAD v4: 7-20164512-A-C
• MyVariant Identifiers: chr7:g.20204135A>C (hg19) ; chr7:g.20164512A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.20164512A>C , CM000669.2:g.20164512A>C	GRCh38
NC_000007.13:g.20204135A>C , CM000669.1:g.20204135A>C	GRCh37
NC_000007.12:g.20170660A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000400331.10:c.-152-113T>G MANE Select	ENSP00000383185.3:n.-152-113T>G
ENST00000332878.8:c.-8-2642T>G	ENSP00000328410.4:n.-8-2642T>G
ENST00000400331.9:c.-152-113T>G	ENSP00000383185.3:n.-152-113T>G
ENST00000471019.1:n.274-113T>G
ENST00000589011.1:c.-8-2642T>G	ENSP00000466864.1:n.-8-2642T>G
NM_182762.3:c.-152-113T>G	NP_877439.3:n.-152-113T>G
NM_182762.4:c.-152-113T>G MANE Select	NP_877439.3:n.-152-113T>G