Canonical Allele Identifier: CA386635531

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994876A>G (hg19) ; chr12:g.109557071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557071A>G , CM000674.2:g.109557071A>G	GRCh38
NC_000012.11:g.109994876A>G , CM000674.1:g.109994876A>G	GRCh37
NC_000012.10:g.108479259A>G	NCBI36
NG_007096.1:g.21427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.710T>C MANE Select	ENSP00000445920.1:p.Ile237Thr
ENST00000537496.5:c.*275T>C	ENSP00000444793.1:n.*275T>C
ENST00000540016.5:c.554T>C	ENSP00000474582.1:p.Ile185Thr
ENST00000541763.6:c.935T>C	ENSP00000474981.1:n.935T>C
ENST00000544051.5:c.*591T>C	ENSP00000438079.1:n.*591T>C
ENST00000545712.6:c.710T>C	ENSP00000445920.1:p.Ile237Thr
NM_052845.3:c.710T>C	NP_443077.1:p.Ile237Thr
NR_038118.1:n.870T>C
XM_011538266.1:c.*57T>C	XP_011536568.1:n.*57T>C
XM_011538267.1:c.*57T>C	XP_011536569.1:n.*57T>C
XM_011538268.1:c.437T>C	XP_011536570.1:p.Ile146Thr
XM_011538269.1:c.434T>C	XP_011536571.1:p.Ile145Thr
XM_011538267.3:c.*57T>C	XP_011536569.1:n.*57T>C
XM_011538268.2:c.437T>C	XP_011536570.1:p.Ile146Thr
XM_011538269.2:c.434T>C	XP_011536571.1:p.Ile145Thr
NM_052845.4:c.710T>C MANE Select	NP_443077.1:p.Ile237Thr
NR_038118.2:n.821T>C