Canonical Allele Identifier: CA386639442

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568780-A-C
• MyVariant Identifiers: chr12:g.110006585A>C (hg19) ; chr12:g.109568780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568780A>C , CM000674.2:g.109568780A>C	GRCh38
NC_000012.11:g.110006585A>C , CM000674.1:g.110006585A>C	GRCh37
NC_000012.10:g.108490968A>C	NCBI36
NG_007096.1:g.9718T>G
NG_007702.1:g.86A>C , LRG_156:g.86A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.280T>G MANE Select	ENSP00000445920.1:p.Ser94Ala
ENST00000420167.6:c.*109T>G	ENSP00000416136.2:n.*109T>G
ENST00000503497.7:c.280T>G	ENSP00000474881.1:p.Ser94Ala
ENST00000536760.1:n.283T>G
ENST00000537236.2:c.280T>G	ENSP00000483818.1:p.Ser94Ala
ENST00000537496.5:c.280T>G	ENSP00000444793.1:p.Ser94Ala
ENST00000540016.5:c.135-3604T>G	ENSP00000474582.1:n.135-3604T>G
ENST00000541763.6:c.280T>G	ENSP00000474981.1:p.Ser94Ala
ENST00000542390.5:n.307T>G
ENST00000544051.5:c.*74T>G	ENSP00000438079.1:n.*74T>G
ENST00000545712.6:c.280T>G	ENSP00000445920.1:p.Ser94Ala
NM_052845.3:c.280T>G	NP_443077.1:p.Ser94Ala
NR_038118.1:n.353T>G
XM_024448961.1:c.280T>G	XP_024304729.1:p.Ser94Ala
NM_052845.4:c.280T>G MANE Select	NP_443077.1:p.Ser94Ala
NR_038118.2:n.304T>G