Canonical Allele Identifier: CA481710435

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109559122A>G , CM000674.2:g.109559122A>G	GRCh38
NC_000012.11:g.109996927A>G , CM000674.1:g.109996927A>G	GRCh37
NC_000012.10:g.108481310A>G	NCBI36
NG_007096.1:g.19376T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.618T>C MANE Select	NP_443077.1:p.Asp206=
ENST00000545712.7:c.618T>C MANE Select	ENSP00000445920.1:p.Asp206=
NM_052845.3:c.618T>C	NP_443077.1:p.Asp206=
NR_038118.1:n.778T>C
NR_038118.2:n.729T>C
ENST00000537496.5:c.*183T>C	ENSP00000444793.1:n.*183T>C
ENST00000540016.5:c.462T>C	ENSP00000474582.1:p.Asp154=
ENST00000541763.6:c.843T>C	ENSP00000474981.1:n.843T>C
ENST00000544051.5:c.*499T>C	ENSP00000438079.1:n.*499T>C
ENST00000545712.6:c.618T>C	ENSP00000445920.1:p.Asp206=
XM_011538266.1:c.463T>C	XP_011536568.1:p.Cys155Arg
XM_011538267.1:c.463T>C	XP_011536569.1:p.Cys155Arg
XM_011538267.3:c.463T>C	XP_011536569.1:p.Cys155Arg
XM_011538268.1:c.345T>C	XP_011536570.1:p.Asp115=
XM_011538268.2:c.345T>C	XP_011536570.1:p.Asp115=
XM_011538269.1:c.342T>C	XP_011536571.1:p.Asp114=
XM_011538269.2:c.342T>C	XP_011536571.1:p.Asp114=
XM_024448961.1:c.618T>C	XP_024304729.1:p.Asp206=