Canonical Allele Identifier: CA243451140

Gene: MMAB

Linked Data

• dbSNP Id: rs1031213136
• gnomAD v2: 12-110006725-T-G
• gnomAD v3: 12-109568920-T-G
• gnomAD v4: 12-109568920-T-G
• MyVariant Identifiers: chr12:g.110006725T>G (hg19) ; chr12:g.109568920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568920T>G , CM000674.2:g.109568920T>G	GRCh38
NC_000012.11:g.110006725T>G , CM000674.1:g.110006725T>G	GRCh37
NC_000012.10:g.108491108T>G	NCBI36
NG_007096.1:g.9578A>C
NG_007702.1:g.226T>G , LRG_156:g.226T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-57A>C MANE Select	ENSP00000445920.1:n.197-57A>C
ENST00000420167.6:c.*26-57A>C	ENSP00000416136.2:n.*26-57A>C
ENST00000503497.7:c.197-57A>C	ENSP00000474881.1:n.197-57A>C
ENST00000536760.1:n.200-57A>C
ENST00000537236.2:c.197-57A>C	ENSP00000483818.1:n.197-57A>C
ENST00000537496.5:c.197-57A>C	ENSP00000444793.1:n.197-57A>C
ENST00000540016.5:c.135-3744A>C	ENSP00000474582.1:n.135-3744A>C
ENST00000541763.6:c.197-57A>C	ENSP00000474981.1:n.197-57A>C
ENST00000542390.5:n.224-57A>C
ENST00000544051.5:c.135-57A>C	ENSP00000438079.1:n.135-57A>C
ENST00000545712.6:c.197-57A>C	ENSP00000445920.1:n.197-57A>C
NM_052845.3:c.197-57A>C	NP_443077.1:n.197-57A>C
NR_038118.1:n.270-57A>C
XM_024448961.1:c.197-57A>C	XP_024304729.1:n.197-57A>C
NM_052845.4:c.197-57A>C MANE Select	NP_443077.1:n.197-57A>C
NR_038118.2:n.221-57A>C