Canonical Allele Identifier: CA386635529

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994875T>C (hg19) ; chr12:g.109557070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557070T>C , CM000674.2:g.109557070T>C	GRCh38
NC_000012.11:g.109994875T>C , CM000674.1:g.109994875T>C	GRCh37
NC_000012.10:g.108479258T>C	NCBI36
NG_007096.1:g.21428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.711A>G MANE Select	ENSP00000445920.1:p.Ile237Met
ENST00000537496.5:c.*276A>G	ENSP00000444793.1:n.*276A>G
ENST00000540016.5:c.555A>G	ENSP00000474582.1:p.Ile185Met
ENST00000541763.6:c.936A>G	ENSP00000474981.1:n.936A>G
ENST00000544051.5:c.*592A>G	ENSP00000438079.1:n.*592A>G
ENST00000545712.6:c.711A>G	ENSP00000445920.1:p.Ile237Met
NM_052845.3:c.711A>G	NP_443077.1:p.Ile237Met
NR_038118.1:n.871A>G
XM_011538266.1:c.*58A>G	XP_011536568.1:n.*58A>G
XM_011538267.1:c.*58A>G	XP_011536569.1:n.*58A>G
XM_011538268.1:c.438A>G	XP_011536570.1:p.Ile146Met
XM_011538269.1:c.435A>G	XP_011536571.1:p.Ile145Met
XM_011538267.3:c.*58A>G	XP_011536569.1:n.*58A>G
XM_011538268.2:c.438A>G	XP_011536570.1:p.Ile146Met
XM_011538269.2:c.435A>G	XP_011536571.1:p.Ile145Met
NM_052845.4:c.711A>G MANE Select	NP_443077.1:p.Ile237Met
NR_038118.2:n.822A>G