Canonical Allele Identifier: CA386635609

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557092-T-C
• MyVariant Identifiers: chr12:g.109994897T>C (hg19) ; chr12:g.109557092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557092T>C , CM000674.2:g.109557092T>C	GRCh38
NC_000012.11:g.109994897T>C , CM000674.1:g.109994897T>C	GRCh37
NC_000012.10:g.108479280T>C	NCBI36
NG_007096.1:g.21406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.689A>G MANE Select	ENSP00000445920.1:p.Lys230Arg
ENST00000537496.5:c.*254A>G	ENSP00000444793.1:n.*254A>G
ENST00000540016.5:c.533A>G	ENSP00000474582.1:p.Lys178Arg
ENST00000541763.6:c.914A>G	ENSP00000474981.1:n.914A>G
ENST00000544051.5:c.*570A>G	ENSP00000438079.1:n.*570A>G
ENST00000545712.6:c.689A>G	ENSP00000445920.1:p.Lys230Arg
NM_052845.3:c.689A>G	NP_443077.1:p.Lys230Arg
NR_038118.1:n.849A>G
XM_011538266.1:c.*36A>G	XP_011536568.1:n.*36A>G
XM_011538267.1:c.*36A>G	XP_011536569.1:n.*36A>G
XM_011538268.1:c.416A>G	XP_011536570.1:p.Lys139Arg
XM_011538269.1:c.413A>G	XP_011536571.1:p.Lys138Arg
XM_011538267.3:c.*36A>G	XP_011536569.1:n.*36A>G
XM_011538268.2:c.416A>G	XP_011536570.1:p.Lys139Arg
XM_011538269.2:c.413A>G	XP_011536571.1:p.Lys138Arg
NM_052845.4:c.689A>G MANE Select	NP_443077.1:p.Lys230Arg
NR_038118.2:n.800A>G