Canonical Allele Identifier: CA386635774

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994935A>T (hg19) ; chr12:g.109557130A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557130A>T , CM000674.2:g.109557130A>T	GRCh38
NC_000012.11:g.109994935A>T , CM000674.1:g.109994935A>T	GRCh37
NC_000012.10:g.108479318A>T	NCBI36
NG_007096.1:g.21368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.651T>A MANE Select	ENSP00000445920.1:p.Ser217Arg
ENST00000537496.5:c.*216T>A	ENSP00000444793.1:n.*216T>A
ENST00000540016.5:c.495T>A	ENSP00000474582.1:p.Ser165Arg
ENST00000541763.6:c.876T>A	ENSP00000474981.1:n.876T>A
ENST00000544051.5:c.*532T>A	ENSP00000438079.1:n.*532T>A
ENST00000545712.6:c.651T>A	ENSP00000445920.1:p.Ser217Arg
NM_052845.3:c.651T>A	NP_443077.1:p.Ser217Arg
NR_038118.1:n.811T>A
XM_011538266.1:c.496T>A	XP_011536568.1:p.Ter166Arg
XM_011538267.1:c.496T>A	XP_011536569.1:p.Ter166Arg
XM_011538268.1:c.378T>A	XP_011536570.1:p.Ser126Arg
XM_011538269.1:c.375T>A	XP_011536571.1:p.Ser125Arg
XM_011538267.3:c.496T>A	XP_011536569.1:p.Ter166Arg
XM_011538268.2:c.378T>A	XP_011536570.1:p.Ser126Arg
XM_011538269.2:c.375T>A	XP_011536571.1:p.Ser125Arg
NM_052845.4:c.651T>A MANE Select	NP_443077.1:p.Ser217Arg
NR_038118.2:n.762T>A