Canonical Allele Identifier: CA386635518

Gene: MMAB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.716T>G MANE Select	ENSP00000445920.1:p.Met239Arg
ENST00000537496.5:c.*281T>G	ENSP00000444793.1:n.*281T>G
ENST00000540016.5:c.560T>G	ENSP00000474582.1:p.Met187Arg
ENST00000541763.6:c.941T>G	ENSP00000474981.1:n.941T>G
ENST00000544051.5:c.*597T>G	ENSP00000438079.1:n.*597T>G
ENST00000545712.6:c.716T>G	ENSP00000445920.1:p.Met239Arg
NM_052845.3:c.716T>G	NP_443077.1:p.Met239Arg
NR_038118.1:n.876T>G
XM_011538266.1:c.*63T>G	XP_011536568.1:n.*63T>G
XM_011538267.1:c.*63T>G	XP_011536569.1:n.*63T>G
XM_011538268.1:c.443T>G	XP_011536570.1:p.Met148Arg
XM_011538269.1:c.440T>G	XP_011536571.1:p.Met147Arg
XM_011538267.3:c.*63T>G	XP_011536569.1:n.*63T>G
XM_011538268.2:c.443T>G	XP_011536570.1:p.Met148Arg
XM_011538269.2:c.440T>G	XP_011536571.1:p.Met147Arg
NM_052845.4:c.716T>G MANE Select	NP_443077.1:p.Met239Arg
NR_038118.2:n.827T>G