Canonical Allele Identifier: CA6779011

Gene: MMAB

Linked Data

• dbSNP Id: rs752703985
• ExAC: 12:110006720 T / G
• gnomAD v2: 12-110006720-T-G
• gnomAD v4: 12-109568915-T-G
• MyVariant Identifiers: chr12:g.110006720T>G (hg19) ; chr12:g.109568915T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568915T>G , CM000674.2:g.109568915T>G	GRCh38
NC_000012.11:g.110006720T>G , CM000674.1:g.110006720T>G	GRCh37
NC_000012.10:g.108491103T>G	NCBI36
NG_007096.1:g.9583A>C
NG_007702.1:g.221T>G , LRG_156:g.221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.197-52A>C MANE Select	ENSP00000445920.1:n.197-52A>C
ENST00000420167.6:c.*26-52A>C	ENSP00000416136.2:n.*26-52A>C
ENST00000503497.7:c.197-52A>C	ENSP00000474881.1:n.197-52A>C
ENST00000536760.1:n.200-52A>C
ENST00000537236.2:c.197-52A>C	ENSP00000483818.1:n.197-52A>C
ENST00000537496.5:c.197-52A>C	ENSP00000444793.1:n.197-52A>C
ENST00000540016.5:c.135-3739A>C	ENSP00000474582.1:n.135-3739A>C
ENST00000541763.6:c.197-52A>C	ENSP00000474981.1:n.197-52A>C
ENST00000542390.5:n.224-52A>C
ENST00000544051.5:c.135-52A>C	ENSP00000438079.1:n.135-52A>C
ENST00000545712.6:c.197-52A>C	ENSP00000445920.1:n.197-52A>C
NM_052845.3:c.197-52A>C	NP_443077.1:n.197-52A>C
NR_038118.1:n.270-52A>C
XM_024448961.1:c.197-52A>C	XP_024304729.1:n.197-52A>C
NM_052845.4:c.197-52A>C MANE Select	NP_443077.1:n.197-52A>C
NR_038118.2:n.221-52A>C