Canonical Allele Identifier: CA6778997

Gene: MMAB

Linked Data

• dbSNP Id: rs778256928
• ExAC: 12:110006590 A / G
• gnomAD v2: 12-110006590-A-G
• gnomAD v4: 12-109568785-A-G
• MyVariant Identifiers: chr12:g.110006590A>G (hg19) ; chr12:g.109568785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568785A>G , CM000674.2:g.109568785A>G	GRCh38
NC_000012.11:g.110006590A>G , CM000674.1:g.110006590A>G	GRCh37
NC_000012.10:g.108490973A>G	NCBI36
NG_007096.1:g.9713T>C
NG_007702.1:g.91A>G , LRG_156:g.91A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.275T>C MANE Select	ENSP00000445920.1:p.Leu92Ser
ENST00000420167.6:c.*104T>C	ENSP00000416136.2:n.*104T>C
ENST00000503497.7:c.275T>C	ENSP00000474881.1:p.Leu92Ser
ENST00000536760.1:n.278T>C
ENST00000537236.2:c.275T>C	ENSP00000483818.1:p.Leu92Ser
ENST00000537496.5:c.275T>C	ENSP00000444793.1:p.Leu92Ser
ENST00000540016.5:c.135-3609T>C	ENSP00000474582.1:n.135-3609T>C
ENST00000541763.6:c.275T>C	ENSP00000474981.1:p.Leu92Ser
ENST00000542390.5:n.302T>C
ENST00000544051.5:c.*69T>C	ENSP00000438079.1:n.*69T>C
ENST00000545712.6:c.275T>C	ENSP00000445920.1:p.Leu92Ser
NM_052845.3:c.275T>C	NP_443077.1:p.Leu92Ser
NR_038118.1:n.348T>C
XM_024448961.1:c.275T>C	XP_024304729.1:p.Leu92Ser
NM_052845.4:c.275T>C MANE Select	NP_443077.1:p.Leu92Ser
NR_038118.2:n.299T>C