Canonical Allele Identifier: CA2727260628
Gene: MMAB HGNC NCBI

Linked Data

dbSNP Id: rs2136208112

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568672C>T , CM000674.2:g.109568672C>T GRCh38
NC_000012.11:g.110006477C>T , CM000674.1:g.110006477C>T GRCh37
NC_000012.10:g.108490860C>T NCBI36
NG_007096.1:g.9826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.290+98G>A MANE Select ENSP00000445920.1:n.290+98G>A
ENST00000420167.6:c.*119+98G>A ENSP00000416136.2:n.*119+98G>A
ENST00000503497.7:c.290+98G>A ENSP00000474881.1:n.290+98G>A
ENST00000536760.1:n.293+98G>A
ENST00000537236.2:c.*94G>A ENSP00000483818.1:n.*94G>A
ENST00000537496.5:c.290+98G>A ENSP00000444793.1:n.290+98G>A
ENST00000540016.5:c.135-3496G>A ENSP00000474582.1:n.135-3496G>A
ENST00000541763.6:c.290+98G>A ENSP00000474981.1:n.290+98G>A
ENST00000542390.5:n.317+98G>A
ENST00000544051.5:c.*84+98G>A ENSP00000438079.1:n.*84+98G>A
ENST00000545712.6:c.290+98G>A ENSP00000445920.1:n.290+98G>A
NM_052845.3:c.290+98G>A NP_443077.1:n.290+98G>A
NR_038118.1:n.363+98G>A
XM_011538266.1:c.-370G>A XP_011536568.1:n.-370G>A
XM_011538267.1:c.-259G>A XP_011536569.1:n.-259G>A
XM_011538269.1:c.-404G>A XP_011536571.1:n.-404G>A
XM_011538267.3:c.-259G>A XP_011536569.1:n.-259G>A
XM_011538269.2:c.-404G>A XP_011536571.1:n.-404G>A
XM_024448961.1:c.290+98G>A XP_024304729.1:n.290+98G>A
NM_052845.4:c.290+98G>A MANE Select NP_443077.1:n.290+98G>A
NR_038118.2:n.314+98G>A