Canonical Allele Identifier: CA481709981

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994845A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557040A>G , CM000674.2:g.109557040A>G	GRCh38
NC_000012.11:g.109994845A>G , CM000674.1:g.109994845A>G	GRCh37
NC_000012.10:g.108479228A>G	NCBI36
NG_007096.1:g.21458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.741T>C MANE Select	ENSP00000445920.1:p.Ser247=
ENST00000537496.5:c.*306T>C	ENSP00000444793.1:n.*306T>C
ENST00000540016.5:c.585T>C	ENSP00000474582.1:p.Ser195=
ENST00000541763.6:c.966T>C	ENSP00000474981.1:n.966T>C
ENST00000544051.5:c.*622T>C	ENSP00000438079.1:n.*622T>C
ENST00000545712.6:c.741T>C	ENSP00000445920.1:p.Ser247=
NM_052845.3:c.741T>C	NP_443077.1:p.Ser247=
NR_038118.1:n.901T>C
XM_011538266.1:c.*88T>C	XP_011536568.1:n.*88T>C
XM_011538267.1:c.*88T>C	XP_011536569.1:n.*88T>C
XM_011538268.1:c.468T>C	XP_011536570.1:p.Ser156=
XM_011538269.1:c.465T>C	XP_011536571.1:p.Ser155=
XM_011538267.3:c.*88T>C	XP_011536569.1:n.*88T>C
XM_011538268.2:c.468T>C	XP_011536570.1:p.Ser156=
XM_011538269.2:c.465T>C	XP_011536571.1:p.Ser155=
NM_052845.4:c.741T>C MANE Select	NP_443077.1:p.Ser247=
NR_038118.2:n.852T>C