Canonical Allele Identifier: CA481710369

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109559107C>T , CM000674.2:g.109559107C>T	GRCh38
NC_000012.11:g.109996912C>T , CM000674.1:g.109996912C>T	GRCh37
NC_000012.10:g.108481295C>T	NCBI36
NG_007096.1:g.19391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.633G>A MANE Select	ENSP00000445920.1:p.Lys211=
ENST00000537496.5:c.*198G>A	ENSP00000444793.1:n.*198G>A
ENST00000540016.5:c.477G>A	ENSP00000474582.1:p.Lys159=
ENST00000541763.6:c.858G>A	ENSP00000474981.1:n.858G>A
ENST00000544051.5:c.*514G>A	ENSP00000438079.1:n.*514G>A
ENST00000545712.6:c.633G>A	ENSP00000445920.1:p.Lys211=
NM_052845.3:c.633G>A	NP_443077.1:p.Lys211=
NR_038118.1:n.793G>A
XM_011538266.1:c.478G>A	XP_011536568.1:p.Val160Ile
XM_011538267.1:c.478G>A	XP_011536569.1:p.Val160Ile
XM_011538268.1:c.360G>A	XP_011536570.1:p.Lys120=
XM_011538269.1:c.357G>A	XP_011536571.1:p.Lys119=
XM_011538267.3:c.478G>A	XP_011536569.1:p.Val160Ile
XM_011538268.2:c.360G>A	XP_011536570.1:p.Lys120=
XM_011538269.2:c.357G>A	XP_011536571.1:p.Lys119=
XM_024448961.1:c.633G>A	XP_024304729.1:p.Lys211=
NM_052845.4:c.633G>A MANE Select	NP_443077.1:p.Lys211=
NR_038118.2:n.744G>A