Canonical Allele Identifier: CA6778793

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109559125G>A , CM000674.2:g.109559125G>A	GRCh38
NC_000012.11:g.109996930G>A , CM000674.1:g.109996930G>A	GRCh37
NC_000012.10:g.108481313G>A	NCBI36
NG_007096.1:g.19373C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.615C>T MANE Select	NP_443077.1:p.Thr205=
ENST00000545712.7:c.615C>T MANE Select	ENSP00000445920.1:p.Thr205=
NM_052845.3:c.615C>T	NP_443077.1:p.Thr205=
NR_038118.1:n.775C>T
NR_038118.2:n.726C>T
ENST00000537496.5:c.*180C>T	ENSP00000444793.1:n.*180C>T
ENST00000540016.5:c.459C>T	ENSP00000474582.1:p.Thr153=
ENST00000541763.6:c.840C>T	ENSP00000474981.1:n.840C>T
ENST00000544051.5:c.*496C>T	ENSP00000438079.1:n.*496C>T
ENST00000545712.6:c.615C>T	ENSP00000445920.1:p.Thr205=
XM_011538266.1:c.460C>T	XP_011536568.1:p.Arg154Ter
XM_011538267.1:c.460C>T	XP_011536569.1:p.Arg154Ter
XM_011538267.3:c.460C>T	XP_011536569.1:p.Arg154Ter
XM_011538268.1:c.342C>T	XP_011536570.1:p.Thr114=
XM_011538268.2:c.342C>T	XP_011536570.1:p.Thr114=
XM_011538269.1:c.339C>T	XP_011536571.1:p.Thr113=
XM_011538269.2:c.339C>T	XP_011536571.1:p.Thr113=
XM_024448961.1:c.615C>T	XP_024304729.1:p.Thr205=