Canonical Allele Identifier: CA386636314

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109559157T>G , CM000674.2:g.109559157T>G	GRCh38
NC_000012.11:g.109996962T>G , CM000674.1:g.109996962T>G	GRCh37
NC_000012.10:g.108481345T>G	NCBI36
NG_007096.1:g.19341A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.585-2A>C MANE Select	NP_443077.1:n.585-2A>C
ENST00000545712.7:c.585-2A>C MANE Select	ENSP00000445920.1:n.585-2A>C
NM_052845.3:c.585-2A>C	NP_443077.1:n.585-2A>C
NR_038118.1:n.745-2A>C
NR_038118.2:n.696-2A>C
ENST00000537496.5:c.*150-2A>C	ENSP00000444793.1:n.*150-2A>C
ENST00000540016.5:c.429-2A>C	ENSP00000474582.1:n.429-2A>C
ENST00000541763.6:c.810-2A>C	ENSP00000474981.1:n.810-2A>C
ENST00000544051.5:c.*466-2A>C	ENSP00000438079.1:n.*466-2A>C
ENST00000545712.6:c.585-2A>C	ENSP00000445920.1:n.585-2A>C
XM_011538266.1:c.430-2A>C	XP_011536568.1:n.430-2A>C
XM_011538267.1:c.430-2A>C	XP_011536569.1:n.430-2A>C
XM_011538267.3:c.430-2A>C	XP_011536569.1:n.430-2A>C
XM_011538268.1:c.312-2A>C	XP_011536570.1:n.312-2A>C
XM_011538268.2:c.312-2A>C	XP_011536570.1:n.312-2A>C
XM_011538269.1:c.309-2A>C	XP_011536571.1:n.309-2A>C
XM_011538269.2:c.309-2A>C	XP_011536571.1:n.309-2A>C
XM_024448961.1:c.585-2A>C	XP_024304729.1:n.585-2A>C