Canonical Allele Identifier: CA246833

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561410C>T , CM000674.2:g.109561410C>T	GRCh38
NC_000012.11:g.109999215C>T , CM000674.1:g.109999215C>T	GRCh37
NC_000012.10:g.108483598C>T	NCBI36
NG_007096.1:g.17088G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.519+10G>A MANE Select	NP_443077.1:n.519+10G>A
ENST00000545712.7:c.519+10G>A MANE Select	ENSP00000445920.1:n.519+10G>A
NM_052845.3:c.519+10G>A	NP_443077.1:n.519+10G>A
NR_038118.1:n.592+10G>A
NR_038118.2:n.543+10G>A
ENST00000537496.5:c.519+10G>A	ENSP00000444793.1:n.519+10G>A
ENST00000540016.5:c.363+10G>A	ENSP00000474582.1:n.363+10G>A
ENST00000541763.6:c.519+10G>A	ENSP00000474981.1:n.519+10G>A
ENST00000544051.5:c.*313+10G>A	ENSP00000438079.1:n.*313+10G>A
ENST00000545712.6:c.519+10G>A	ENSP00000445920.1:n.519+10G>A
XM_011538266.1:c.277+10G>A	XP_011536568.1:n.277+10G>A
XM_011538267.1:c.277+10G>A	XP_011536569.1:n.277+10G>A
XM_011538267.3:c.277+10G>A	XP_011536569.1:n.277+10G>A
XM_011538268.1:c.246+10G>A	XP_011536570.1:n.246+10G>A
XM_011538268.2:c.246+10G>A	XP_011536570.1:n.246+10G>A
XM_011538269.1:c.243+10G>A	XP_011536571.1:n.243+10G>A
XM_011538269.2:c.243+10G>A	XP_011536571.1:n.243+10G>A
XM_024448961.1:c.519+10G>A	XP_024304729.1:n.519+10G>A