Canonical Allele Identifier: CA386635485

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994856A>C (hg19) ; chr12:g.109557051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557051A>C , CM000674.2:g.109557051A>C	GRCh38
NC_000012.11:g.109994856A>C , CM000674.1:g.109994856A>C	GRCh37
NC_000012.10:g.108479239A>C	NCBI36
NG_007096.1:g.21447T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.730T>G MANE Select	ENSP00000445920.1:p.Ser244Ala
ENST00000537496.5:c.*295T>G	ENSP00000444793.1:n.*295T>G
ENST00000540016.5:c.574T>G	ENSP00000474582.1:p.Ser192Ala
ENST00000541763.6:c.955T>G	ENSP00000474981.1:n.955T>G
ENST00000544051.5:c.*611T>G	ENSP00000438079.1:n.*611T>G
ENST00000545712.6:c.730T>G	ENSP00000445920.1:p.Ser244Ala
NM_052845.3:c.730T>G	NP_443077.1:p.Ser244Ala
NR_038118.1:n.890T>G
XM_011538266.1:c.*77T>G	XP_011536568.1:n.*77T>G
XM_011538267.1:c.*77T>G	XP_011536569.1:n.*77T>G
XM_011538268.1:c.457T>G	XP_011536570.1:p.Ser153Ala
XM_011538269.1:c.454T>G	XP_011536571.1:p.Ser152Ala
XM_011538267.3:c.*77T>G	XP_011536569.1:n.*77T>G
XM_011538268.2:c.457T>G	XP_011536570.1:p.Ser153Ala
XM_011538269.2:c.454T>G	XP_011536571.1:p.Ser152Ala
NM_052845.4:c.730T>G MANE Select	NP_443077.1:p.Ser244Ala
NR_038118.2:n.841T>G