Canonical Allele Identifier: CA10604766

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109559115C>T , CM000674.2:g.109559115C>T	GRCh38
NC_000012.11:g.109996920C>T , CM000674.1:g.109996920C>T	GRCh37
NC_000012.10:g.108481303C>T	NCBI36
NG_007096.1:g.19383G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.625G>A MANE Select	NP_443077.1:p.Val209Met
ENST00000545712.7:c.625G>A MANE Select	ENSP00000445920.1:p.Val209Met
NM_052845.3:c.625G>A	NP_443077.1:p.Val209Met
NR_038118.1:n.785G>A
NR_038118.2:n.736G>A
ENST00000537496.5:c.*190G>A	ENSP00000444793.1:n.*190G>A
ENST00000540016.5:c.469G>A	ENSP00000474582.1:p.Val157Met
ENST00000541763.6:c.850G>A	ENSP00000474981.1:n.850G>A
ENST00000544051.5:c.*506G>A	ENSP00000438079.1:n.*506G>A
ENST00000545712.6:c.625G>A	ENSP00000445920.1:p.Val209Met
XM_011538266.1:c.470G>A	XP_011536568.1:p.Arg157His
XM_011538267.1:c.470G>A	XP_011536569.1:p.Arg157His
XM_011538267.3:c.470G>A	XP_011536569.1:p.Arg157His
XM_011538268.1:c.352G>A	XP_011536570.1:p.Val118Met
XM_011538268.2:c.352G>A	XP_011536570.1:p.Val118Met
XM_011538269.1:c.349G>A	XP_011536571.1:p.Val117Met
XM_011538269.2:c.349G>A	XP_011536571.1:p.Val117Met
XM_024448961.1:c.625G>A	XP_024304729.1:p.Val209Met