Canonical Allele Identifier: CA386635689

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994915G>A (hg19) ; chr12:g.109557110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557110G>A , CM000674.2:g.109557110G>A	GRCh38
NC_000012.11:g.109994915G>A , CM000674.1:g.109994915G>A	GRCh37
NC_000012.10:g.108479298G>A	NCBI36
NG_007096.1:g.21388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.671C>T MANE Select	ENSP00000445920.1:p.Ala224Val
ENST00000537496.5:c.*236C>T	ENSP00000444793.1:n.*236C>T
ENST00000540016.5:c.515C>T	ENSP00000474582.1:p.Ala172Val
ENST00000541763.6:c.896C>T	ENSP00000474981.1:n.896C>T
ENST00000544051.5:c.*552C>T	ENSP00000438079.1:n.*552C>T
ENST00000545712.6:c.671C>T	ENSP00000445920.1:p.Ala224Val
NM_052845.3:c.671C>T	NP_443077.1:p.Ala224Val
NR_038118.1:n.831C>T
XM_011538266.1:c.*18C>T	XP_011536568.1:n.*18C>T
XM_011538267.1:c.*18C>T	XP_011536569.1:n.*18C>T
XM_011538268.1:c.398C>T	XP_011536570.1:p.Ala133Val
XM_011538269.1:c.395C>T	XP_011536571.1:p.Ala132Val
XM_011538267.3:c.*18C>T	XP_011536569.1:n.*18C>T
XM_011538268.2:c.398C>T	XP_011536570.1:p.Ala133Val
XM_011538269.2:c.395C>T	XP_011536571.1:p.Ala132Val
NM_052845.4:c.671C>T MANE Select	NP_443077.1:p.Ala224Val
NR_038118.2:n.782C>T