Canonical Allele Identifier: CA2838211034

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561153C>A , CM000674.2:g.109561153C>A	GRCh38
NC_000012.11:g.109998958C>A , CM000674.1:g.109998958C>A	GRCh37
NC_000012.10:g.108483341C>A	NCBI36
NG_007096.1:g.17345G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.520-49G>T MANE Select	ENSP00000445920.1:n.520-49G>T
ENST00000537496.5:c.*85-49G>T	ENSP00000444793.1:n.*85-49G>T
ENST00000540016.5:c.364-49G>T	ENSP00000474582.1:n.364-49G>T
ENST00000541763.6:c.696G>T	ENSP00000474981.1:n.696G>T
ENST00000544051.5:c.*401-49G>T	ENSP00000438079.1:n.*401-49G>T
ENST00000545712.6:c.520-49G>T	ENSP00000445920.1:n.520-49G>T
NM_052845.3:c.520-49G>T	NP_443077.1:n.520-49G>T
NR_038118.1:n.680-49G>T
XM_011538266.1:c.365-49G>T	XP_011536568.1:n.365-49G>T
XM_011538267.1:c.365-49G>T	XP_011536569.1:n.365-49G>T
XM_011538268.1:c.247-49G>T	XP_011536570.1:n.247-49G>T
XM_011538269.1:c.244-49G>T	XP_011536571.1:n.244-49G>T
XM_011538267.3:c.365-49G>T	XP_011536569.1:n.365-49G>T
XM_011538268.2:c.247-49G>T	XP_011536570.1:n.247-49G>T
XM_011538269.2:c.244-49G>T	XP_011536571.1:n.244-49G>T
XM_024448961.1:c.520-49G>T	XP_024304729.1:n.520-49G>T
NM_052845.4:c.520-49G>T MANE Select	NP_443077.1:n.520-49G>T
NR_038118.2:n.631-49G>T