Canonical Allele Identifier: CA386636973

Gene: MMAB

Linked Data

• gnomAD v4: 12-109561079-A-C
• MyVariant Identifiers: chr12:g.109998884A>C (hg19) ; chr12:g.109561079A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561079A>C , CM000674.2:g.109561079A>C	GRCh38
NC_000012.11:g.109998884A>C , CM000674.1:g.109998884A>C	GRCh37
NC_000012.10:g.108483267A>C	NCBI36
NG_007096.1:g.17419T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.545T>G MANE Select	ENSP00000445920.1:p.Leu182Arg
ENST00000537496.5:c.*110T>G	ENSP00000444793.1:n.*110T>G
ENST00000540016.5:c.389T>G	ENSP00000474582.1:p.Leu130Arg
ENST00000541763.6:c.770T>G	ENSP00000474981.1:n.770T>G
ENST00000544051.5:c.*426T>G	ENSP00000438079.1:n.*426T>G
ENST00000545712.6:c.545T>G	ENSP00000445920.1:p.Leu182Arg
NM_052845.3:c.545T>G	NP_443077.1:p.Leu182Arg
NR_038118.1:n.705T>G
XM_011538266.1:c.390T>G	XP_011536568.1:p.Ala130=
XM_011538267.1:c.390T>G	XP_011536569.1:p.Ala130=
XM_011538268.1:c.272T>G	XP_011536570.1:p.Leu91Arg
XM_011538269.1:c.269T>G	XP_011536571.1:p.Leu90Arg
XM_011538267.3:c.390T>G	XP_011536569.1:p.Ala130=
XM_011538268.2:c.272T>G	XP_011536570.1:p.Leu91Arg
XM_011538269.2:c.269T>G	XP_011536571.1:p.Leu90Arg
XM_024448961.1:c.545T>G	XP_024304729.1:p.Leu182Arg
NM_052845.4:c.545T>G MANE Select	NP_443077.1:p.Leu182Arg
NR_038118.2:n.656T>G