Canonical Allele Identifier: CA6778925

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561814C>T , CM000674.2:g.109561814C>T	GRCh38
NC_000012.11:g.109999619C>T , CM000674.1:g.109999619C>T	GRCh37
NC_000012.10:g.108484002C>T	NCBI36
NG_007096.1:g.16684G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.387G>A MANE Select	NP_443077.1:p.Ala129=
ENST00000545712.7:c.387G>A MANE Select	ENSP00000445920.1:p.Ala129=
NM_052845.3:c.387G>A	NP_443077.1:p.Ala129=
NR_038118.1:n.460G>A
NR_038118.2:n.411G>A
ENST00000420167.6:c.*216G>A	ENSP00000416136.2:n.*216G>A
ENST00000537496.5:c.387G>A	ENSP00000444793.1:p.Ala129=
ENST00000540016.5:c.231G>A	ENSP00000474582.1:p.Ala77=
ENST00000541763.6:c.387G>A	ENSP00000474981.1:p.Ala129=
ENST00000542390.5:n.414G>A
ENST00000544051.5:c.*181G>A	ENSP00000438079.1:n.*181G>A
ENST00000545712.6:c.387G>A	ENSP00000445920.1:p.Ala129=
XM_011538266.1:c.145G>A	XP_011536568.1:p.Asp49Asn
XM_011538267.1:c.145G>A	XP_011536569.1:p.Asp49Asn
XM_011538267.3:c.145G>A	XP_011536569.1:p.Asp49Asn
XM_011538268.1:c.114G>A	XP_011536570.1:p.Ala38=
XM_011538268.2:c.114G>A	XP_011536570.1:p.Ala38=
XM_011538269.1:c.111G>A	XP_011536571.1:p.Ala37=
XM_011538269.2:c.111G>A	XP_011536571.1:p.Ala37=
XM_024448961.1:c.387G>A	XP_024304729.1:p.Ala129=