Canonical Allele Identifier: CA386637611

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561518C>G , CM000674.2:g.109561518C>G	GRCh38
NC_000012.11:g.109999323C>G , CM000674.1:g.109999323C>G	GRCh37
NC_000012.10:g.108483706C>G	NCBI36
NG_007096.1:g.16980G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.422-1G>C MANE Select	NP_443077.1:n.422-1G>C
ENST00000545712.7:c.422-1G>C MANE Select	ENSP00000445920.1:n.422-1G>C
NM_052845.3:c.422-1G>C	NP_443077.1:n.422-1G>C
NR_038118.1:n.495-1G>C
NR_038118.2:n.446-1G>C
ENST00000537496.5:c.422-1G>C	ENSP00000444793.1:n.422-1G>C
ENST00000540016.5:c.266-1G>C	ENSP00000474582.1:n.266-1G>C
ENST00000541763.6:c.422-1G>C	ENSP00000474981.1:n.422-1G>C
ENST00000544051.5:c.*216-1G>C	ENSP00000438079.1:n.*216-1G>C
ENST00000545712.6:c.422-1G>C	ENSP00000445920.1:n.422-1G>C
XM_011538266.1:c.180-1G>C	XP_011536568.1:n.180-1G>C
XM_011538267.1:c.180-1G>C	XP_011536569.1:n.180-1G>C
XM_011538267.3:c.180-1G>C	XP_011536569.1:n.180-1G>C
XM_011538268.1:c.149-1G>C	XP_011536570.1:n.149-1G>C
XM_011538268.2:c.149-1G>C	XP_011536570.1:n.149-1G>C
XM_011538269.1:c.146-1G>C	XP_011536571.1:n.146-1G>C
XM_011538269.2:c.146-1G>C	XP_011536571.1:n.146-1G>C
XM_024448961.1:c.422-1G>C	XP_024304729.1:n.422-1G>C