Canonical Allele Identifier: CA481710135

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994917T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557112T>G , CM000674.2:g.109557112T>G	GRCh38
NC_000012.11:g.109994917T>G , CM000674.1:g.109994917T>G	GRCh37
NC_000012.10:g.108479300T>G	NCBI36
NG_007096.1:g.21386A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.669A>C MANE Select	ENSP00000445920.1:p.Leu223=
ENST00000537496.5:c.*234A>C	ENSP00000444793.1:n.*234A>C
ENST00000540016.5:c.513A>C	ENSP00000474582.1:p.Leu171=
ENST00000541763.6:c.894A>C	ENSP00000474981.1:n.894A>C
ENST00000544051.5:c.*550A>C	ENSP00000438079.1:n.*550A>C
ENST00000545712.6:c.669A>C	ENSP00000445920.1:p.Leu223=
NM_052845.3:c.669A>C	NP_443077.1:p.Leu223=
NR_038118.1:n.829A>C
XM_011538266.1:c.*16A>C	XP_011536568.1:n.*16A>C
XM_011538267.1:c.*16A>C	XP_011536569.1:n.*16A>C
XM_011538268.1:c.396A>C	XP_011536570.1:p.Leu132=
XM_011538269.1:c.393A>C	XP_011536571.1:p.Leu131=
XM_011538267.3:c.*16A>C	XP_011536569.1:n.*16A>C
XM_011538268.2:c.396A>C	XP_011536570.1:p.Leu132=
XM_011538269.2:c.393A>C	XP_011536571.1:p.Leu131=
NM_052845.4:c.669A>C MANE Select	NP_443077.1:p.Leu223=
NR_038118.2:n.780A>C