Canonical Allele Identifier: CA243447475

Gene: MMAB

Linked Data

• dbSNP Id: rs975193925
• gnomAD v3: 12-109557069-A-G
• gnomAD v4: 12-109557069-A-G
• MyVariant Identifiers: chr12:g.109994874A>G (hg19) ; chr12:g.109557069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557069A>G , CM000674.2:g.109557069A>G	GRCh38
NC_000012.11:g.109994874A>G , CM000674.1:g.109994874A>G	GRCh37
NC_000012.10:g.108479257A>G	NCBI36
NG_007096.1:g.21429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.712T>C MANE Select	ENSP00000445920.1:p.Tyr238His
ENST00000537496.5:c.*277T>C	ENSP00000444793.1:n.*277T>C
ENST00000540016.5:c.556T>C	ENSP00000474582.1:p.Tyr186His
ENST00000541763.6:c.937T>C	ENSP00000474981.1:n.937T>C
ENST00000544051.5:c.*593T>C	ENSP00000438079.1:n.*593T>C
ENST00000545712.6:c.712T>C	ENSP00000445920.1:p.Tyr238His
NM_052845.3:c.712T>C	NP_443077.1:p.Tyr238His
NR_038118.1:n.872T>C
XM_011538266.1:c.*59T>C	XP_011536568.1:n.*59T>C
XM_011538267.1:c.*59T>C	XP_011536569.1:n.*59T>C
XM_011538268.1:c.439T>C	XP_011536570.1:p.Tyr147His
XM_011538269.1:c.436T>C	XP_011536571.1:p.Tyr146His
XM_011538267.3:c.*59T>C	XP_011536569.1:n.*59T>C
XM_011538268.2:c.439T>C	XP_011536570.1:p.Tyr147His
XM_011538269.2:c.436T>C	XP_011536571.1:p.Tyr146His
NM_052845.4:c.712T>C MANE Select	NP_443077.1:p.Tyr238His
NR_038118.2:n.823T>C