Canonical Allele Identifier: CA6778742

Gene: MMAB

Linked Data

• dbSNP Id: rs372445888
• ExAC: 12:109994795 C / A
• gnomAD v2: 12-109994795-C-A
• gnomAD v3: 12-109556990-C-A
• gnomAD v4: 12-109556990-C-A
• MyVariant Identifiers: chr12:g.109994795C>A (hg19) ; chr12:g.109556990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556990C>A , CM000674.2:g.109556990C>A	GRCh38
NC_000012.11:g.109994795C>A , CM000674.1:g.109994795C>A	GRCh37
NC_000012.10:g.108479178C>A	NCBI36
NG_007096.1:g.21508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*38G>T MANE Select	ENSP00000445920.1:n.*38G>T
ENST00000537496.5:c.*356G>T	ENSP00000444793.1:n.*356G>T
ENST00000540016.5:c.*38G>T	ENSP00000474582.1:n.*38G>T
ENST00000541763.6:c.1016G>T	ENSP00000474981.1:n.1016G>T
ENST00000544051.5:c.*672G>T	ENSP00000438079.1:n.*672G>T
ENST00000545712.6:c.*38G>T	ENSP00000445920.1:n.*38G>T
NM_052845.3:c.*38G>T	NP_443077.1:n.*38G>T
NR_038118.1:n.951G>T
XM_011538266.1:c.*138G>T	XP_011536568.1:n.*138G>T
XM_011538267.1:c.*138G>T	XP_011536569.1:n.*138G>T
XM_011538268.1:c.*38G>T	XP_011536570.1:n.*38G>T
XM_011538269.1:c.*38G>T	XP_011536571.1:n.*38G>T
XM_011538267.3:c.*138G>T	XP_011536569.1:n.*138G>T
XM_011538268.2:c.*38G>T	XP_011536570.1:n.*38G>T
XM_011538269.2:c.*38G>T	XP_011536571.1:n.*38G>T
NM_052845.4:c.*38G>T MANE Select	NP_443077.1:n.*38G>T
NR_038118.2:n.902G>T