Canonical Allele Identifier: CA607285339

Gene: MMAB

Linked Data

• dbSNP Id: rs1252908049
• gnomAD v2: 12-109994784-C-T
• MyVariant Identifiers: chr12:g.109994784C>T (hg19) ; chr12:g.109556979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556979C>T , CM000674.2:g.109556979C>T	GRCh38
NC_000012.11:g.109994784C>T , CM000674.1:g.109994784C>T	GRCh37
NC_000012.10:g.108479167C>T	NCBI36
NG_007096.1:g.21519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*49G>A MANE Select	ENSP00000445920.1:n.*49G>A
ENST00000537496.5:c.*367G>A	ENSP00000444793.1:n.*367G>A
ENST00000540016.5:c.*49G>A	ENSP00000474582.1:n.*49G>A
ENST00000541763.6:c.1027G>A	ENSP00000474981.1:n.1027G>A
ENST00000544051.5:c.*683G>A	ENSP00000438079.1:n.*683G>A
ENST00000545712.6:c.*49G>A	ENSP00000445920.1:n.*49G>A
NM_052845.3:c.*49G>A	NP_443077.1:n.*49G>A
NR_038118.1:n.962G>A
XM_011538266.1:c.*149G>A	XP_011536568.1:n.*149G>A
XM_011538267.1:c.*149G>A	XP_011536569.1:n.*149G>A
XM_011538268.1:c.*49G>A	XP_011536570.1:n.*49G>A
XM_011538269.1:c.*49G>A	XP_011536571.1:n.*49G>A
XM_011538267.3:c.*149G>A	XP_011536569.1:n.*149G>A
XM_011538268.2:c.*49G>A	XP_011536570.1:n.*49G>A
XM_011538269.2:c.*49G>A	XP_011536571.1:n.*49G>A
NM_052845.4:c.*49G>A MANE Select	NP_443077.1:n.*49G>A
NR_038118.2:n.913G>A