Canonical Allele Identifier: CA2620810727

Gene: MMAB

Linked Data

• gnomAD v4: 12-109561213-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561213C>A , CM000674.2:g.109561213C>A	GRCh38
NC_000012.11:g.109999018C>A , CM000674.1:g.109999018C>A	GRCh37
NC_000012.10:g.108483401C>A	NCBI36
NG_007096.1:g.17285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.520-109G>T MANE Select	ENSP00000445920.1:n.520-109G>T
ENST00000537496.5:c.*84+30G>T	ENSP00000444793.1:n.*84+30G>T
ENST00000540016.5:c.364-109G>T	ENSP00000474582.1:n.364-109G>T
ENST00000541763.6:c.636G>T	ENSP00000474981.1:n.636G>T
ENST00000544051.5:c.*400+30G>T	ENSP00000438079.1:n.*400+30G>T
ENST00000545712.6:c.520-109G>T	ENSP00000445920.1:n.520-109G>T
NM_052845.3:c.520-109G>T	NP_443077.1:n.520-109G>T
NR_038118.1:n.679+30G>T
XM_011538266.1:c.364+30G>T	XP_011536568.1:n.364+30G>T
XM_011538267.1:c.364+30G>T	XP_011536569.1:n.364+30G>T
XM_011538268.1:c.247-109G>T	XP_011536570.1:n.247-109G>T
XM_011538269.1:c.244-109G>T	XP_011536571.1:n.244-109G>T
XM_011538267.3:c.364+30G>T	XP_011536569.1:n.364+30G>T
XM_011538268.2:c.247-109G>T	XP_011536570.1:n.247-109G>T
XM_011538269.2:c.244-109G>T	XP_011536571.1:n.244-109G>T
XM_024448961.1:c.520-109G>T	XP_024304729.1:n.520-109G>T
NM_052845.4:c.520-109G>T MANE Select	NP_443077.1:n.520-109G>T
NR_038118.2:n.630+30G>T