Canonical Allele Identifier: CA386635522

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994872G>C (hg19) ; chr12:g.109557067G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557067G>C , CM000674.2:g.109557067G>C	GRCh38
NC_000012.11:g.109994872G>C , CM000674.1:g.109994872G>C	GRCh37
NC_000012.10:g.108479255G>C	NCBI36
NG_007096.1:g.21431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.714C>G MANE Select	ENSP00000445920.1:p.Tyr238Ter
ENST00000537496.5:c.*279C>G	ENSP00000444793.1:n.*279C>G
ENST00000540016.5:c.558C>G	ENSP00000474582.1:p.Tyr186Ter
ENST00000541763.6:c.939C>G	ENSP00000474981.1:n.939C>G
ENST00000544051.5:c.*595C>G	ENSP00000438079.1:n.*595C>G
ENST00000545712.6:c.714C>G	ENSP00000445920.1:p.Tyr238Ter
NM_052845.3:c.714C>G	NP_443077.1:p.Tyr238Ter
NR_038118.1:n.874C>G
XM_011538266.1:c.*61C>G	XP_011536568.1:n.*61C>G
XM_011538267.1:c.*61C>G	XP_011536569.1:n.*61C>G
XM_011538268.1:c.441C>G	XP_011536570.1:p.Tyr147Ter
XM_011538269.1:c.438C>G	XP_011536571.1:p.Tyr146Ter
XM_011538267.3:c.*61C>G	XP_011536569.1:n.*61C>G
XM_011538268.2:c.441C>G	XP_011536570.1:p.Tyr147Ter
XM_011538269.2:c.438C>G	XP_011536571.1:p.Tyr146Ter
NM_052845.4:c.714C>G MANE Select	NP_443077.1:p.Tyr238Ter
NR_038118.2:n.825C>G