Canonical Allele Identifier: CA6778757

Gene: MMAB

Linked Data

• dbSNP Id: rs9593
• ExAC: 12:109994870 A / G
• gnomAD v2: 12-109994870-A-G
• gnomAD v4: 12-109557065-A-G
• MyVariant Identifiers: chr12:g.109994870A>G (hg19) ; chr12:g.109557065A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557065A>G , CM000674.2:g.109557065A>G	GRCh38
NC_000012.11:g.109994870A>G , CM000674.1:g.109994870A>G	GRCh37
NC_000012.10:g.108479253A>G	NCBI36
NG_007096.1:g.21433T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.716T>C MANE Select	ENSP00000445920.1:p.Met239Thr
ENST00000537496.5:c.*281T>C	ENSP00000444793.1:n.*281T>C
ENST00000540016.5:c.560T>C	ENSP00000474582.1:p.Met187Thr
ENST00000541763.6:c.941T>C	ENSP00000474981.1:n.941T>C
ENST00000544051.5:c.*597T>C	ENSP00000438079.1:n.*597T>C
ENST00000545712.6:c.716T>C	ENSP00000445920.1:p.Met239Thr
NM_052845.3:c.716T>C	NP_443077.1:p.Met239Thr
NR_038118.1:n.876T>C
XM_011538266.1:c.*63T>C	XP_011536568.1:n.*63T>C
XM_011538267.1:c.*63T>C	XP_011536569.1:n.*63T>C
XM_011538268.1:c.443T>C	XP_011536570.1:p.Met148Thr
XM_011538269.1:c.440T>C	XP_011536571.1:p.Met147Thr
XM_011538267.3:c.*63T>C	XP_011536569.1:n.*63T>C
XM_011538268.2:c.443T>C	XP_011536570.1:p.Met148Thr
XM_011538269.2:c.440T>C	XP_011536571.1:p.Met147Thr
NM_052845.4:c.716T>C MANE Select	NP_443077.1:p.Met239Thr
NR_038118.2:n.827T>C