Canonical Allele Identifier: CA481710045

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994863A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557058A>G , CM000674.2:g.109557058A>G	GRCh38
NC_000012.11:g.109994863A>G , CM000674.1:g.109994863A>G	GRCh37
NC_000012.10:g.108479246A>G	NCBI36
NG_007096.1:g.21440T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.723T>C MANE Select	ENSP00000445920.1:p.Asn241=
ENST00000537496.5:c.*288T>C	ENSP00000444793.1:n.*288T>C
ENST00000540016.5:c.567T>C	ENSP00000474582.1:p.Asn189=
ENST00000541763.6:c.948T>C	ENSP00000474981.1:n.948T>C
ENST00000544051.5:c.*604T>C	ENSP00000438079.1:n.*604T>C
ENST00000545712.6:c.723T>C	ENSP00000445920.1:p.Asn241=
NM_052845.3:c.723T>C	NP_443077.1:p.Asn241=
NR_038118.1:n.883T>C
XM_011538266.1:c.*70T>C	XP_011536568.1:n.*70T>C
XM_011538267.1:c.*70T>C	XP_011536569.1:n.*70T>C
XM_011538268.1:c.450T>C	XP_011536570.1:p.Asn150=
XM_011538269.1:c.447T>C	XP_011536571.1:p.Asn149=
XM_011538267.3:c.*70T>C	XP_011536569.1:n.*70T>C
XM_011538268.2:c.450T>C	XP_011536570.1:p.Asn150=
XM_011538269.2:c.447T>C	XP_011536571.1:p.Asn149=
NM_052845.4:c.723T>C MANE Select	NP_443077.1:p.Asn241=
NR_038118.2:n.834T>C