Canonical Allele Identifier: CA386635484

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557050-G-T
• MyVariant Identifiers: chr12:g.109994855G>T (hg19) ; chr12:g.109557050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557050G>T , CM000674.2:g.109557050G>T	GRCh38
NC_000012.11:g.109994855G>T , CM000674.1:g.109994855G>T	GRCh37
NC_000012.10:g.108479238G>T	NCBI36
NG_007096.1:g.21448C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.731C>A MANE Select	ENSP00000445920.1:p.Ser244Ter
ENST00000537496.5:c.*296C>A	ENSP00000444793.1:n.*296C>A
ENST00000540016.5:c.575C>A	ENSP00000474582.1:p.Ser192Ter
ENST00000541763.6:c.956C>A	ENSP00000474981.1:n.956C>A
ENST00000544051.5:c.*612C>A	ENSP00000438079.1:n.*612C>A
ENST00000545712.6:c.731C>A	ENSP00000445920.1:p.Ser244Ter
NM_052845.3:c.731C>A	NP_443077.1:p.Ser244Ter
NR_038118.1:n.891C>A
XM_011538266.1:c.*78C>A	XP_011536568.1:n.*78C>A
XM_011538267.1:c.*78C>A	XP_011536569.1:n.*78C>A
XM_011538268.1:c.458C>A	XP_011536570.1:p.Ser153Ter
XM_011538269.1:c.455C>A	XP_011536571.1:p.Ser152Ter
XM_011538267.3:c.*78C>A	XP_011536569.1:n.*78C>A
XM_011538268.2:c.458C>A	XP_011536570.1:p.Ser153Ter
XM_011538269.2:c.455C>A	XP_011536571.1:p.Ser152Ter
NM_052845.4:c.731C>A MANE Select	NP_443077.1:p.Ser244Ter
NR_038118.2:n.842C>A