Canonical Allele Identifier: CA386635717

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994922T>G (hg19) ; chr12:g.109557117T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557117T>G , CM000674.2:g.109557117T>G	GRCh38
NC_000012.11:g.109994922T>G , CM000674.1:g.109994922T>G	GRCh37
NC_000012.10:g.108479305T>G	NCBI36
NG_007096.1:g.21381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.664A>C MANE Select	ENSP00000445920.1:p.Thr222Pro
ENST00000537496.5:c.*229A>C	ENSP00000444793.1:n.*229A>C
ENST00000540016.5:c.508A>C	ENSP00000474582.1:p.Thr170Pro
ENST00000541763.6:c.889A>C	ENSP00000474981.1:n.889A>C
ENST00000544051.5:c.*545A>C	ENSP00000438079.1:n.*545A>C
ENST00000545712.6:c.664A>C	ENSP00000445920.1:p.Thr222Pro
NM_052845.3:c.664A>C	NP_443077.1:p.Thr222Pro
NR_038118.1:n.824A>C
XM_011538266.1:c.*11A>C	XP_011536568.1:n.*11A>C
XM_011538267.1:c.*11A>C	XP_011536569.1:n.*11A>C
XM_011538268.1:c.391A>C	XP_011536570.1:p.Thr131Pro
XM_011538269.1:c.388A>C	XP_011536571.1:p.Thr130Pro
XM_011538267.3:c.*11A>C	XP_011536569.1:n.*11A>C
XM_011538268.2:c.391A>C	XP_011536570.1:p.Thr131Pro
XM_011538269.2:c.388A>C	XP_011536571.1:p.Thr130Pro
NM_052845.4:c.664A>C MANE Select	NP_443077.1:p.Thr222Pro
NR_038118.2:n.775A>C