Canonical Allele Identifier: CA386635643

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994904C>A (hg19) ; chr12:g.109557099C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557099C>A , CM000674.2:g.109557099C>A	GRCh38
NC_000012.11:g.109994904C>A , CM000674.1:g.109994904C>A	GRCh37
NC_000012.10:g.108479287C>A	NCBI36
NG_007096.1:g.21399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.682G>T MANE Select	ENSP00000445920.1:p.Ala228Ser
ENST00000537496.5:c.*247G>T	ENSP00000444793.1:n.*247G>T
ENST00000540016.5:c.526G>T	ENSP00000474582.1:p.Ala176Ser
ENST00000541763.6:c.907G>T	ENSP00000474981.1:n.907G>T
ENST00000544051.5:c.*563G>T	ENSP00000438079.1:n.*563G>T
ENST00000545712.6:c.682G>T	ENSP00000445920.1:p.Ala228Ser
NM_052845.3:c.682G>T	NP_443077.1:p.Ala228Ser
NR_038118.1:n.842G>T
XM_011538266.1:c.*29G>T	XP_011536568.1:n.*29G>T
XM_011538267.1:c.*29G>T	XP_011536569.1:n.*29G>T
XM_011538268.1:c.409G>T	XP_011536570.1:p.Ala137Ser
XM_011538269.1:c.406G>T	XP_011536571.1:p.Ala136Ser
XM_011538267.3:c.*29G>T	XP_011536569.1:n.*29G>T
XM_011538268.2:c.409G>T	XP_011536570.1:p.Ala137Ser
XM_011538269.2:c.406G>T	XP_011536571.1:p.Ala136Ser
NM_052845.4:c.682G>T MANE Select	NP_443077.1:p.Ala228Ser
NR_038118.2:n.793G>T