Canonical Allele Identifier: CA386635731

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994925A>G (hg19) ; chr12:g.109557120A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557120A>G , CM000674.2:g.109557120A>G	GRCh38
NC_000012.11:g.109994925A>G , CM000674.1:g.109994925A>G	GRCh37
NC_000012.10:g.108479308A>G	NCBI36
NG_007096.1:g.21378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.661T>C MANE Select	ENSP00000445920.1:p.Phe221Leu
ENST00000537496.5:c.*226T>C	ENSP00000444793.1:n.*226T>C
ENST00000540016.5:c.505T>C	ENSP00000474582.1:p.Phe169Leu
ENST00000541763.6:c.886T>C	ENSP00000474981.1:n.886T>C
ENST00000544051.5:c.*542T>C	ENSP00000438079.1:n.*542T>C
ENST00000545712.6:c.661T>C	ENSP00000445920.1:p.Phe221Leu
NM_052845.3:c.661T>C	NP_443077.1:p.Phe221Leu
NR_038118.1:n.821T>C
XM_011538266.1:c.*8T>C	XP_011536568.1:n.*8T>C
XM_011538267.1:c.*8T>C	XP_011536569.1:n.*8T>C
XM_011538268.1:c.388T>C	XP_011536570.1:p.Phe130Leu
XM_011538269.1:c.385T>C	XP_011536571.1:p.Phe129Leu
XM_011538267.3:c.*8T>C	XP_011536569.1:n.*8T>C
XM_011538268.2:c.388T>C	XP_011536570.1:p.Phe130Leu
XM_011538269.2:c.385T>C	XP_011536571.1:p.Phe129Leu
NM_052845.4:c.661T>C MANE Select	NP_443077.1:p.Phe221Leu
NR_038118.2:n.772T>C