Canonical Allele Identifier: CA386636930

Gene: MMAB

Linked Data

• gnomAD v4: 12-109561072-G-C
• MyVariant Identifiers: chr12:g.109998877G>C (hg19) ; chr12:g.109561072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561072G>C , CM000674.2:g.109561072G>C	GRCh38
NC_000012.11:g.109998877G>C , CM000674.1:g.109998877G>C	GRCh37
NC_000012.10:g.108483260G>C	NCBI36
NG_007096.1:g.17426C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.552C>G MANE Select	ENSP00000445920.1:p.Phe184Leu
ENST00000537496.5:c.*117C>G	ENSP00000444793.1:n.*117C>G
ENST00000540016.5:c.396C>G	ENSP00000474582.1:p.Phe132Leu
ENST00000541763.6:c.777C>G	ENSP00000474981.1:n.777C>G
ENST00000544051.5:c.*433C>G	ENSP00000438079.1:n.*433C>G
ENST00000545712.6:c.552C>G	ENSP00000445920.1:p.Phe184Leu
NM_052845.3:c.552C>G	NP_443077.1:p.Phe184Leu
NR_038118.1:n.712C>G
XM_011538266.1:c.397C>G	XP_011536568.1:p.Leu133Val
XM_011538267.1:c.397C>G	XP_011536569.1:p.Leu133Val
XM_011538268.1:c.279C>G	XP_011536570.1:p.Phe93Leu
XM_011538269.1:c.276C>G	XP_011536571.1:p.Phe92Leu
XM_011538267.3:c.397C>G	XP_011536569.1:p.Leu133Val
XM_011538268.2:c.279C>G	XP_011536570.1:p.Phe93Leu
XM_011538269.2:c.276C>G	XP_011536571.1:p.Phe92Leu
XM_024448961.1:c.552C>G	XP_024304729.1:p.Phe184Leu
NM_052845.4:c.552C>G MANE Select	NP_443077.1:p.Phe184Leu
NR_038118.2:n.663C>G