Canonical Allele Identifier: CA386635489

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994859G>C (hg19) ; chr12:g.109557054G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557054G>C , CM000674.2:g.109557054G>C	GRCh38
NC_000012.11:g.109994859G>C , CM000674.1:g.109994859G>C	GRCh37
NC_000012.10:g.108479242G>C	NCBI36
NG_007096.1:g.21444C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.727C>G MANE Select	ENSP00000445920.1:p.Pro243Ala
ENST00000537496.5:c.*292C>G	ENSP00000444793.1:n.*292C>G
ENST00000540016.5:c.571C>G	ENSP00000474582.1:p.Pro191Ala
ENST00000541763.6:c.952C>G	ENSP00000474981.1:n.952C>G
ENST00000544051.5:c.*608C>G	ENSP00000438079.1:n.*608C>G
ENST00000545712.6:c.727C>G	ENSP00000445920.1:p.Pro243Ala
NM_052845.3:c.727C>G	NP_443077.1:p.Pro243Ala
NR_038118.1:n.887C>G
XM_011538266.1:c.*74C>G	XP_011536568.1:n.*74C>G
XM_011538267.1:c.*74C>G	XP_011536569.1:n.*74C>G
XM_011538268.1:c.454C>G	XP_011536570.1:p.Pro152Ala
XM_011538269.1:c.451C>G	XP_011536571.1:p.Pro151Ala
XM_011538267.3:c.*74C>G	XP_011536569.1:n.*74C>G
XM_011538268.2:c.454C>G	XP_011536570.1:p.Pro152Ala
XM_011538269.2:c.451C>G	XP_011536571.1:p.Pro151Ala
NM_052845.4:c.727C>G MANE Select	NP_443077.1:p.Pro243Ala
NR_038118.2:n.838C>G