Canonical Allele Identifier: CA386635638

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994903G>T (hg19) ; chr12:g.109557098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557098G>T , CM000674.2:g.109557098G>T	GRCh38
NC_000012.11:g.109994903G>T , CM000674.1:g.109994903G>T	GRCh37
NC_000012.10:g.108479286G>T	NCBI36
NG_007096.1:g.21400C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.683C>A MANE Select	ENSP00000445920.1:p.Ala228Asp
ENST00000537496.5:c.*248C>A	ENSP00000444793.1:n.*248C>A
ENST00000540016.5:c.527C>A	ENSP00000474582.1:p.Ala176Asp
ENST00000541763.6:c.908C>A	ENSP00000474981.1:n.908C>A
ENST00000544051.5:c.*564C>A	ENSP00000438079.1:n.*564C>A
ENST00000545712.6:c.683C>A	ENSP00000445920.1:p.Ala228Asp
NM_052845.3:c.683C>A	NP_443077.1:p.Ala228Asp
NR_038118.1:n.843C>A
XM_011538266.1:c.*30C>A	XP_011536568.1:n.*30C>A
XM_011538267.1:c.*30C>A	XP_011536569.1:n.*30C>A
XM_011538268.1:c.410C>A	XP_011536570.1:p.Ala137Asp
XM_011538269.1:c.407C>A	XP_011536571.1:p.Ala136Asp
XM_011538267.3:c.*30C>A	XP_011536569.1:n.*30C>A
XM_011538268.2:c.410C>A	XP_011536570.1:p.Ala137Asp
XM_011538269.2:c.407C>A	XP_011536571.1:p.Ala136Asp
NM_052845.4:c.683C>A MANE Select	NP_443077.1:p.Ala228Asp
NR_038118.2:n.794C>A