Canonical Allele Identifier: CA386635406

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994834C>A (hg19) ; chr12:g.109557029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557029C>A , CM000674.2:g.109557029C>A	GRCh38
NC_000012.11:g.109994834C>A , CM000674.1:g.109994834C>A	GRCh37
NC_000012.10:g.108479217C>A	NCBI36
NG_007096.1:g.21469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.752G>T MANE Select	ENSP00000445920.1:p.Ter251Leu
ENST00000537496.5:c.*317G>T	ENSP00000444793.1:n.*317G>T
ENST00000540016.5:c.596G>T	ENSP00000474582.1:p.Ter199Leu
ENST00000541763.6:c.977G>T	ENSP00000474981.1:n.977G>T
ENST00000544051.5:c.*633G>T	ENSP00000438079.1:n.*633G>T
ENST00000545712.6:c.752G>T	ENSP00000445920.1:p.Ter251Leu
NM_052845.3:c.752G>T	NP_443077.1:p.Ter251Leu
NR_038118.1:n.912G>T
XM_011538266.1:c.*99G>T	XP_011536568.1:n.*99G>T
XM_011538267.1:c.*99G>T	XP_011536569.1:n.*99G>T
XM_011538268.1:c.479G>T	XP_011536570.1:p.Ter160Leu
XM_011538269.1:c.476G>T	XP_011536571.1:p.Ter159Leu
XM_011538267.3:c.*99G>T	XP_011536569.1:n.*99G>T
XM_011538268.2:c.479G>T	XP_011536570.1:p.Ter160Leu
XM_011538269.2:c.476G>T	XP_011536571.1:p.Ter159Leu
NM_052845.4:c.752G>T MANE Select	NP_443077.1:p.Ter251Leu
NR_038118.2:n.863G>T