Canonical Allele Identifier: CA386635526

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994873T>A (hg19) ; chr12:g.109557068T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557068T>A , CM000674.2:g.109557068T>A	GRCh38
NC_000012.11:g.109994873T>A , CM000674.1:g.109994873T>A	GRCh37
NC_000012.10:g.108479256T>A	NCBI36
NG_007096.1:g.21430A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.713A>T MANE Select	ENSP00000445920.1:p.Tyr238Phe
ENST00000537496.5:c.*278A>T	ENSP00000444793.1:n.*278A>T
ENST00000540016.5:c.557A>T	ENSP00000474582.1:p.Tyr186Phe
ENST00000541763.6:c.938A>T	ENSP00000474981.1:n.938A>T
ENST00000544051.5:c.*594A>T	ENSP00000438079.1:n.*594A>T
ENST00000545712.6:c.713A>T	ENSP00000445920.1:p.Tyr238Phe
NM_052845.3:c.713A>T	NP_443077.1:p.Tyr238Phe
NR_038118.1:n.873A>T
XM_011538266.1:c.*60A>T	XP_011536568.1:n.*60A>T
XM_011538267.1:c.*60A>T	XP_011536569.1:n.*60A>T
XM_011538268.1:c.440A>T	XP_011536570.1:p.Tyr147Phe
XM_011538269.1:c.437A>T	XP_011536571.1:p.Tyr146Phe
XM_011538267.3:c.*60A>T	XP_011536569.1:n.*60A>T
XM_011538268.2:c.440A>T	XP_011536570.1:p.Tyr147Phe
XM_011538269.2:c.437A>T	XP_011536571.1:p.Tyr146Phe
NM_052845.4:c.713A>T MANE Select	NP_443077.1:p.Tyr238Phe
NR_038118.2:n.824A>T