Canonical Allele Identifier: CA347903

Gene: MMAB

Linked Data

• ClinVar Variation Id: 219007
• ClinVar RCV Id: RCV000203386 ; RCV000424166 ; RCV002509300
• dbSNP Id: rs765547005
• ExAC: 12:109994930 T / C
• gnomAD v2: 12-109994930-T-C
• gnomAD v3: 12-109557125-T-C
• gnomAD v4: 12-109557125-T-C
• COSMIC: COSM3703849
• MyVariant Identifiers: chr12:g.109994930T>C (hg19) ; chr12:g.109557125T>C (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557125T>C , CM000674.2:g.109557125T>C	GRCh38
NC_000012.11:g.109994930T>C , CM000674.1:g.109994930T>C	GRCh37
NC_000012.10:g.108479313T>C	NCBI36
NG_007096.1:g.21373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.656A>G MANE Select	ENSP00000445920.1:p.Tyr219Cys
ENST00000537496.5:c.*221A>G	ENSP00000444793.1:n.*221A>G
ENST00000540016.5:c.500A>G	ENSP00000474582.1:p.Tyr167Cys
ENST00000541763.6:c.881A>G	ENSP00000474981.1:n.881A>G
ENST00000544051.5:c.*537A>G	ENSP00000438079.1:n.*537A>G
ENST00000545712.6:c.656A>G	ENSP00000445920.1:p.Tyr219Cys
NM_052845.3:c.656A>G	NP_443077.1:p.Tyr219Cys
NR_038118.1:n.816A>G
XM_011538266.1:c.*3A>G	XP_011536568.1:n.*3A>G
XM_011538267.1:c.*3A>G	XP_011536569.1:n.*3A>G
XM_011538268.1:c.383A>G	XP_011536570.1:p.Tyr128Cys
XM_011538269.1:c.380A>G	XP_011536571.1:p.Tyr127Cys
XM_011538267.3:c.*3A>G	XP_011536569.1:n.*3A>G
XM_011538268.2:c.383A>G	XP_011536570.1:p.Tyr128Cys
XM_011538269.2:c.380A>G	XP_011536571.1:p.Tyr127Cys
NM_052845.4:c.656A>G MANE Select	NP_443077.1:p.Tyr219Cys
NR_038118.2:n.767A>G