Canonical Allele Identifier: CA6778927

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561821G>T , CM000674.2:g.109561821G>T	GRCh38
NC_000012.11:g.109999626G>T , CM000674.1:g.109999626G>T	GRCh37
NC_000012.10:g.108484009G>T	NCBI36
NG_007096.1:g.16677C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.380C>A MANE Select	NP_443077.1:p.Ala127Asp
ENST00000545712.7:c.380C>A MANE Select	ENSP00000445920.1:p.Ala127Asp
NM_052845.3:c.380C>A	NP_443077.1:p.Ala127Asp
NR_038118.1:n.453C>A
NR_038118.2:n.404C>A
ENST00000420167.6:c.*209C>A	ENSP00000416136.2:n.*209C>A
ENST00000537496.5:c.380C>A	ENSP00000444793.1:p.Ala127Asp
ENST00000540016.5:c.224C>A	ENSP00000474582.1:p.Ala75Asp
ENST00000541763.6:c.380C>A	ENSP00000474981.1:p.Ala127Asp
ENST00000542390.5:n.407C>A
ENST00000544051.5:c.*174C>A	ENSP00000438079.1:n.*174C>A
ENST00000545712.6:c.380C>A	ENSP00000445920.1:p.Ala127Asp
XM_011538266.1:c.138C>A	XP_011536568.1:p.Gly46=
XM_011538267.1:c.138C>A	XP_011536569.1:p.Gly46=
XM_011538267.3:c.138C>A	XP_011536569.1:p.Gly46=
XM_011538268.1:c.107C>A	XP_011536570.1:p.Ala36Asp
XM_011538268.2:c.107C>A	XP_011536570.1:p.Ala36Asp
XM_011538269.1:c.104C>A	XP_011536571.1:p.Ala35Asp
XM_011538269.2:c.104C>A	XP_011536571.1:p.Ala35Asp
XM_024448961.1:c.380C>A	XP_024304729.1:p.Ala127Asp