Canonical Allele Identifier: CA6778997
Gene: MMAB HGNC NCBI

Linked Data

dbSNP Id: rs778256928

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109568785A>G , CM000674.2:g.109568785A>G GRCh38
NC_000012.11:g.110006590A>G , CM000674.1:g.110006590A>G GRCh37
NC_000012.10:g.108490973A>G NCBI36
NG_007096.1:g.9713T>C
NG_007702.1:g.91A>G , LRG_156:g.91A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.275T>C MANE Select ENSP00000445920.1:p.Leu92Ser
ENST00000420167.6:c.*104T>C ENSP00000416136.2:n.*104T>C
ENST00000503497.7:c.275T>C ENSP00000474881.1:p.Leu92Ser
ENST00000536760.1:n.278T>C
ENST00000537236.2:c.275T>C ENSP00000483818.1:p.Leu92Ser
ENST00000537496.5:c.275T>C ENSP00000444793.1:p.Leu92Ser
ENST00000540016.5:c.135-3609T>C ENSP00000474582.1:n.135-3609T>C
ENST00000541763.6:c.275T>C ENSP00000474981.1:p.Leu92Ser
ENST00000542390.5:n.302T>C
ENST00000544051.5:c.*69T>C ENSP00000438079.1:n.*69T>C
ENST00000545712.6:c.275T>C ENSP00000445920.1:p.Leu92Ser
NM_052845.3:c.275T>C NP_443077.1:p.Leu92Ser
NR_038118.1:n.348T>C
XM_024448961.1:c.275T>C XP_024304729.1:p.Leu92Ser
NM_052845.4:c.275T>C MANE Select NP_443077.1:p.Leu92Ser
NR_038118.2:n.299T>C