Canonical Allele Identifier: CA243447465

Gene: MMAB

Linked Data

• dbSNP Id: rs1031181846
• gnomAD v4: 12-109556992-A-C
• MyVariant Identifiers: chr12:g.109994797A>C (hg19) ; chr12:g.109556992A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556992A>C , CM000674.2:g.109556992A>C	GRCh38
NC_000012.11:g.109994797A>C , CM000674.1:g.109994797A>C	GRCh37
NC_000012.10:g.108479180A>C	NCBI36
NG_007096.1:g.21506T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*36T>G MANE Select	ENSP00000445920.1:n.*36T>G
ENST00000537496.5:c.*354T>G	ENSP00000444793.1:n.*354T>G
ENST00000540016.5:c.*36T>G	ENSP00000474582.1:n.*36T>G
ENST00000541763.6:c.1014T>G	ENSP00000474981.1:n.1014T>G
ENST00000544051.5:c.*670T>G	ENSP00000438079.1:n.*670T>G
ENST00000545712.6:c.*36T>G	ENSP00000445920.1:n.*36T>G
NM_052845.3:c.*36T>G	NP_443077.1:n.*36T>G
NR_038118.1:n.949T>G
XM_011538266.1:c.*136T>G	XP_011536568.1:n.*136T>G
XM_011538267.1:c.*136T>G	XP_011536569.1:n.*136T>G
XM_011538268.1:c.*36T>G	XP_011536570.1:n.*36T>G
XM_011538269.1:c.*36T>G	XP_011536571.1:n.*36T>G
XM_011538267.3:c.*136T>G	XP_011536569.1:n.*136T>G
XM_011538268.2:c.*36T>G	XP_011536570.1:n.*36T>G
XM_011538269.2:c.*36T>G	XP_011536571.1:n.*36T>G
NM_052845.4:c.*36T>G MANE Select	NP_443077.1:n.*36T>G
NR_038118.2:n.900T>G