Canonical Allele Identifier: CA386635515

Gene: MMAB

Linked Data

• COSMIC: COSM262044
• MyVariant Identifiers: chr12:g.109994869C>A (hg19) ; chr12:g.109557064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557064C>A , CM000674.2:g.109557064C>A	GRCh38
NC_000012.11:g.109994869C>A , CM000674.1:g.109994869C>A	GRCh37
NC_000012.10:g.108479252C>A	NCBI36
NG_007096.1:g.21434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.717G>T MANE Select	ENSP00000445920.1:p.Met239Ile
ENST00000537496.5:c.*282G>T	ENSP00000444793.1:n.*282G>T
ENST00000540016.5:c.561G>T	ENSP00000474582.1:p.Met187Ile
ENST00000541763.6:c.942G>T	ENSP00000474981.1:n.942G>T
ENST00000544051.5:c.*598G>T	ENSP00000438079.1:n.*598G>T
ENST00000545712.6:c.717G>T	ENSP00000445920.1:p.Met239Ile
NM_052845.3:c.717G>T	NP_443077.1:p.Met239Ile
NR_038118.1:n.877G>T
XM_011538266.1:c.*64G>T	XP_011536568.1:n.*64G>T
XM_011538267.1:c.*64G>T	XP_011536569.1:n.*64G>T
XM_011538268.1:c.444G>T	XP_011536570.1:p.Met148Ile
XM_011538269.1:c.441G>T	XP_011536571.1:p.Met147Ile
XM_011538267.3:c.*64G>T	XP_011536569.1:n.*64G>T
XM_011538268.2:c.444G>T	XP_011536570.1:p.Met148Ile
XM_011538269.2:c.441G>T	XP_011536571.1:p.Met147Ile
NM_052845.4:c.717G>T MANE Select	NP_443077.1:p.Met239Ile
NR_038118.2:n.828G>T