Canonical Allele Identifier: CA481710130

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994914G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557109G>A , CM000674.2:g.109557109G>A	GRCh38
NC_000012.11:g.109994914G>A , CM000674.1:g.109994914G>A	GRCh37
NC_000012.10:g.108479297G>A	NCBI36
NG_007096.1:g.21389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.672C>T MANE Select	ENSP00000445920.1:p.Ala224=
ENST00000537496.5:c.*237C>T	ENSP00000444793.1:n.*237C>T
ENST00000540016.5:c.516C>T	ENSP00000474582.1:p.Ala172=
ENST00000541763.6:c.897C>T	ENSP00000474981.1:n.897C>T
ENST00000544051.5:c.*553C>T	ENSP00000438079.1:n.*553C>T
ENST00000545712.6:c.672C>T	ENSP00000445920.1:p.Ala224=
NM_052845.3:c.672C>T	NP_443077.1:p.Ala224=
NR_038118.1:n.832C>T
XM_011538266.1:c.*19C>T	XP_011536568.1:n.*19C>T
XM_011538267.1:c.*19C>T	XP_011536569.1:n.*19C>T
XM_011538268.1:c.399C>T	XP_011536570.1:p.Ala133=
XM_011538269.1:c.396C>T	XP_011536571.1:p.Ala132=
XM_011538267.3:c.*19C>T	XP_011536569.1:n.*19C>T
XM_011538268.2:c.399C>T	XP_011536570.1:p.Ala133=
XM_011538269.2:c.396C>T	XP_011536571.1:p.Ala132=
NM_052845.4:c.672C>T MANE Select	NP_443077.1:p.Ala224=
NR_038118.2:n.783C>T