Canonical Allele Identifier: CA2062448305

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561108A>G , CM000674.2:g.109561108A>G	GRCh38
NC_000012.11:g.109998913A>G , CM000674.1:g.109998913A>G	GRCh37
NC_000012.10:g.108483296A>G	NCBI36
NG_007096.1:g.17390T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.520-4T>C MANE Select	NP_443077.1:n.520-4T>C
ENST00000545712.7:c.520-4T>C MANE Select	ENSP00000445920.1:n.520-4T>C
NM_052845.3:c.520-4T>C	NP_443077.1:n.520-4T>C
NR_038118.1:n.680-4T>C
NR_038118.2:n.631-4T>C
ENST00000537496.5:c.*85-4T>C	ENSP00000444793.1:n.*85-4T>C
ENST00000540016.5:c.364-4T>C	ENSP00000474582.1:n.364-4T>C
ENST00000541763.6:c.741T>C	ENSP00000474981.1:n.741T>C
ENST00000544051.5:c.*401-4T>C	ENSP00000438079.1:n.*401-4T>C
ENST00000545712.6:c.520-4T>C	ENSP00000445920.1:n.520-4T>C
XM_011538266.1:c.365-4T>C	XP_011536568.1:n.365-4T>C
XM_011538267.1:c.365-4T>C	XP_011536569.1:n.365-4T>C
XM_011538267.3:c.365-4T>C	XP_011536569.1:n.365-4T>C
XM_011538268.1:c.247-4T>C	XP_011536570.1:n.247-4T>C
XM_011538268.2:c.247-4T>C	XP_011536570.1:n.247-4T>C
XM_011538269.1:c.244-4T>C	XP_011536571.1:n.244-4T>C
XM_011538269.2:c.244-4T>C	XP_011536571.1:n.244-4T>C
XM_024448961.1:c.520-4T>C	XP_024304729.1:n.520-4T>C