Canonical Allele Identifier: CA154994953
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs945702974
gnomAD v2: 7-20203830-G-A
gnomAD v4: 7-20164207-G-A
MyVariant Identifiers: chr7:g.20203830G>A (hg19) chr7:g.20164207G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164207G>A , CM000669.2:g.20164207G>A GRCh38
NC_000007.13:g.20203830G>A , CM000669.1:g.20203830G>A GRCh37
NC_000007.12:g.20170355G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+49C>T MANE Select ENSP00000383185.3:n.-9+49C>T
ENST00000332878.8:c.-8-2337C>T ENSP00000328410.4:n.-8-2337C>T
ENST00000400331.9:c.-9+49C>T ENSP00000383185.3:n.-9+49C>T
ENST00000589011.1:c.-8-2337C>T ENSP00000466864.1:n.-8-2337C>T
NM_182762.3:c.-9+49C>T NP_877439.3:n.-9+49C>T
NM_182762.4:c.-9+49C>T MANE Select NP_877439.3:n.-9+49C>T
Search 100 bp 5'
Search 100 bp 3'