Canonical Allele Identifier: CA386636806

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109998849T>A (hg19) ; chr12:g.109561044T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561044T>A , CM000674.2:g.109561044T>A	GRCh38
NC_000012.11:g.109998849T>A , CM000674.1:g.109998849T>A	GRCh37
NC_000012.10:g.108483232T>A	NCBI36
NG_007096.1:g.17454A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.580A>T MANE Select	ENSP00000445920.1:p.Arg194Ter
ENST00000537496.5:c.*145A>T	ENSP00000444793.1:n.*145A>T
ENST00000540016.5:c.424A>T	ENSP00000474582.1:p.Arg142Ter
ENST00000541763.6:c.805A>T	ENSP00000474981.1:n.805A>T
ENST00000544051.5:c.*461A>T	ENSP00000438079.1:n.*461A>T
ENST00000545712.6:c.580A>T	ENSP00000445920.1:p.Arg194Ter
NM_052845.3:c.580A>T	NP_443077.1:p.Arg194Ter
NR_038118.1:n.740A>T
XM_011538266.1:c.425A>T	XP_011536568.1:p.Glu142Val
XM_011538267.1:c.425A>T	XP_011536569.1:p.Glu142Val
XM_011538268.1:c.307A>T	XP_011536570.1:p.Arg103Ter
XM_011538269.1:c.304A>T	XP_011536571.1:p.Arg102Ter
XM_011538267.3:c.425A>T	XP_011536569.1:p.Glu142Val
XM_011538268.2:c.307A>T	XP_011536570.1:p.Arg103Ter
XM_011538269.2:c.304A>T	XP_011536571.1:p.Arg102Ter
XM_024448961.1:c.580A>T	XP_024304729.1:p.Arg194Ter
NM_052845.4:c.580A>T MANE Select	NP_443077.1:p.Arg194Ter
NR_038118.2:n.691A>T