Canonical Allele Identifier: CA683436604

Gene: MMAB

Linked Data

• dbSNP Id: rs1189352185
• gnomAD v4: 12-109557232-T-C
• MyVariant Identifiers: chr12:g.109995037T>C (hg19) ; chr12:g.109557232T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557232T>C , CM000674.2:g.109557232T>C	GRCh38
NC_000012.11:g.109995037T>C , CM000674.1:g.109995037T>C	GRCh37
NC_000012.10:g.108479420T>C	NCBI36
NG_007096.1:g.21266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-96A>G MANE Select	ENSP00000445920.1:n.645-96A>G
ENST00000537496.5:c.*210-96A>G	ENSP00000444793.1:n.*210-96A>G
ENST00000540016.5:c.489-96A>G	ENSP00000474582.1:n.489-96A>G
ENST00000541763.6:c.870-96A>G	ENSP00000474981.1:n.870-96A>G
ENST00000544051.5:c.*526-96A>G	ENSP00000438079.1:n.*526-96A>G
ENST00000545712.6:c.645-96A>G	ENSP00000445920.1:n.645-96A>G
NM_052845.3:c.645-96A>G	NP_443077.1:n.645-96A>G
NR_038118.1:n.805-96A>G
XM_011538266.1:c.490-96A>G	XP_011536568.1:n.490-96A>G
XM_011538267.1:c.490-96A>G	XP_011536569.1:n.490-96A>G
XM_011538268.1:c.372-96A>G	XP_011536570.1:n.372-96A>G
XM_011538269.1:c.369-96A>G	XP_011536571.1:n.369-96A>G
XM_011538267.3:c.490-96A>G	XP_011536569.1:n.490-96A>G
XM_011538268.2:c.372-96A>G	XP_011536570.1:n.372-96A>G
XM_011538269.2:c.369-96A>G	XP_011536571.1:n.369-96A>G
NM_052845.4:c.645-96A>G MANE Select	NP_443077.1:n.645-96A>G
NR_038118.2:n.756-96A>G