Canonical Allele Identifier: CA386635467

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557042-A-C
• MyVariant Identifiers: chr12:g.109994847A>C (hg19) ; chr12:g.109557042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557042A>C , CM000674.2:g.109557042A>C	GRCh38
NC_000012.11:g.109994847A>C , CM000674.1:g.109994847A>C	GRCh37
NC_000012.10:g.108479230A>C	NCBI36
NG_007096.1:g.21456T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.739T>G MANE Select	ENSP00000445920.1:p.Ser247Ala
ENST00000537496.5:c.*304T>G	ENSP00000444793.1:n.*304T>G
ENST00000540016.5:c.583T>G	ENSP00000474582.1:p.Ser195Ala
ENST00000541763.6:c.964T>G	ENSP00000474981.1:n.964T>G
ENST00000544051.5:c.*620T>G	ENSP00000438079.1:n.*620T>G
ENST00000545712.6:c.739T>G	ENSP00000445920.1:p.Ser247Ala
NM_052845.3:c.739T>G	NP_443077.1:p.Ser247Ala
NR_038118.1:n.899T>G
XM_011538266.1:c.*86T>G	XP_011536568.1:n.*86T>G
XM_011538267.1:c.*86T>G	XP_011536569.1:n.*86T>G
XM_011538268.1:c.466T>G	XP_011536570.1:p.Ser156Ala
XM_011538269.1:c.463T>G	XP_011536571.1:p.Ser155Ala
XM_011538267.3:c.*86T>G	XP_011536569.1:n.*86T>G
XM_011538268.2:c.466T>G	XP_011536570.1:p.Ser156Ala
XM_011538269.2:c.463T>G	XP_011536571.1:p.Ser155Ala
NM_052845.4:c.739T>G MANE Select	NP_443077.1:p.Ser247Ala
NR_038118.2:n.850T>G