Canonical Allele Identifier: CA386635570

Gene: MMAB

Linked Data

• dbSNP Id: rs1884007118
• gnomAD v3: 12-109557083-T-G
• gnomAD v4: 12-109557083-T-G
• MyVariant Identifiers: chr12:g.109994888T>G (hg19) ; chr12:g.109557083T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557083T>G , CM000674.2:g.109557083T>G	GRCh38
NC_000012.11:g.109994888T>G , CM000674.1:g.109994888T>G	GRCh37
NC_000012.10:g.108479271T>G	NCBI36
NG_007096.1:g.21415A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.698A>C MANE Select	ENSP00000445920.1:p.Asn233Thr
ENST00000537496.5:c.*263A>C	ENSP00000444793.1:n.*263A>C
ENST00000540016.5:c.542A>C	ENSP00000474582.1:p.Asn181Thr
ENST00000541763.6:c.923A>C	ENSP00000474981.1:n.923A>C
ENST00000544051.5:c.*579A>C	ENSP00000438079.1:n.*579A>C
ENST00000545712.6:c.698A>C	ENSP00000445920.1:p.Asn233Thr
NM_052845.3:c.698A>C	NP_443077.1:p.Asn233Thr
NR_038118.1:n.858A>C
XM_011538266.1:c.*45A>C	XP_011536568.1:n.*45A>C
XM_011538267.1:c.*45A>C	XP_011536569.1:n.*45A>C
XM_011538268.1:c.425A>C	XP_011536570.1:p.Asn142Thr
XM_011538269.1:c.422A>C	XP_011536571.1:p.Asn141Thr
XM_011538267.3:c.*45A>C	XP_011536569.1:n.*45A>C
XM_011538268.2:c.425A>C	XP_011536570.1:p.Asn142Thr
XM_011538269.2:c.422A>C	XP_011536571.1:p.Asn141Thr
NM_052845.4:c.698A>C MANE Select	NP_443077.1:p.Asn233Thr
NR_038118.2:n.809A>C