Canonical Allele Identifier: CA386635727

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994924A>T (hg19) ; chr12:g.109557119A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557119A>T , CM000674.2:g.109557119A>T	GRCh38
NC_000012.11:g.109994924A>T , CM000674.1:g.109994924A>T	GRCh37
NC_000012.10:g.108479307A>T	NCBI36
NG_007096.1:g.21379T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.662T>A MANE Select	ENSP00000445920.1:p.Phe221Tyr
ENST00000537496.5:c.*227T>A	ENSP00000444793.1:n.*227T>A
ENST00000540016.5:c.506T>A	ENSP00000474582.1:p.Phe169Tyr
ENST00000541763.6:c.887T>A	ENSP00000474981.1:n.887T>A
ENST00000544051.5:c.*543T>A	ENSP00000438079.1:n.*543T>A
ENST00000545712.6:c.662T>A	ENSP00000445920.1:p.Phe221Tyr
NM_052845.3:c.662T>A	NP_443077.1:p.Phe221Tyr
NR_038118.1:n.822T>A
XM_011538266.1:c.*9T>A	XP_011536568.1:n.*9T>A
XM_011538267.1:c.*9T>A	XP_011536569.1:n.*9T>A
XM_011538268.1:c.389T>A	XP_011536570.1:p.Phe130Tyr
XM_011538269.1:c.386T>A	XP_011536571.1:p.Phe129Tyr
XM_011538267.3:c.*9T>A	XP_011536569.1:n.*9T>A
XM_011538268.2:c.389T>A	XP_011536570.1:p.Phe130Tyr
XM_011538269.2:c.386T>A	XP_011536571.1:p.Phe129Tyr
NM_052845.4:c.662T>A MANE Select	NP_443077.1:p.Phe221Tyr
NR_038118.2:n.773T>A