Canonical Allele Identifier: CA2062443970
Gene: MMAB HGNC NCBI

Linked Data

dbSNP Id: rs1884003879

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557026T>G , CM000674.2:g.109557026T>G GRCh38
NC_000012.11:g.109994831T>G , CM000674.1:g.109994831T>G GRCh37
NC_000012.10:g.108479214T>G NCBI36
NG_007096.1:g.21472A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.*2A>C MANE Select ENSP00000445920.1:n.*2A>C
ENST00000537496.5:c.*320A>C ENSP00000444793.1:n.*320A>C
ENST00000540016.5:c.*2A>C ENSP00000474582.1:n.*2A>C
ENST00000541763.6:c.980A>C ENSP00000474981.1:n.980A>C
ENST00000544051.5:c.*636A>C ENSP00000438079.1:n.*636A>C
ENST00000545712.6:c.*2A>C ENSP00000445920.1:n.*2A>C
NM_052845.3:c.*2A>C NP_443077.1:n.*2A>C
NR_038118.1:n.915A>C
XM_011538266.1:c.*102A>C XP_011536568.1:n.*102A>C
XM_011538267.1:c.*102A>C XP_011536569.1:n.*102A>C
XM_011538268.1:c.*2A>C XP_011536570.1:n.*2A>C
XM_011538269.1:c.*2A>C XP_011536571.1:n.*2A>C
XM_011538267.3:c.*102A>C XP_011536569.1:n.*102A>C
XM_011538268.2:c.*2A>C XP_011536570.1:n.*2A>C
XM_011538269.2:c.*2A>C XP_011536571.1:n.*2A>C
NM_052845.4:c.*2A>C MANE Select NP_443077.1:n.*2A>C
NR_038118.2:n.866A>C