Canonical Allele Identifier: CA2727260649

Gene: MMAB

Linked Data

• dbSNP Id: rs2136192313

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556967A>G , CM000674.2:g.109556967A>G	GRCh38
NC_000012.11:g.109994772A>G , CM000674.1:g.109994772A>G	GRCh37
NC_000012.10:g.108479155A>G	NCBI36
NG_007096.1:g.21531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*61T>C MANE Select	ENSP00000445920.1:n.*61T>C
ENST00000537496.5:c.*379T>C	ENSP00000444793.1:n.*379T>C
ENST00000540016.5:c.*61T>C	ENSP00000474582.1:n.*61T>C
ENST00000541763.6:c.1039T>C	ENSP00000474981.1:n.1039T>C
ENST00000544051.5:c.*695T>C	ENSP00000438079.1:n.*695T>C
ENST00000545712.6:c.*61T>C	ENSP00000445920.1:n.*61T>C
NM_052845.3:c.*61T>C	NP_443077.1:n.*61T>C
NR_038118.1:n.974T>C
XM_011538266.1:c.*161T>C	XP_011536568.1:n.*161T>C
XM_011538267.1:c.*161T>C	XP_011536569.1:n.*161T>C
XM_011538268.1:c.*61T>C	XP_011536570.1:n.*61T>C
XM_011538269.1:c.*61T>C	XP_011536571.1:n.*61T>C
XM_011538267.3:c.*161T>C	XP_011536569.1:n.*161T>C
XM_011538268.2:c.*61T>C	XP_011536570.1:n.*61T>C
XM_011538269.2:c.*61T>C	XP_011536571.1:n.*61T>C
NM_052845.4:c.*61T>C MANE Select	NP_443077.1:n.*61T>C
NR_038118.2:n.925T>C