Canonical Allele Identifier: CA386635697

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994916C>G (hg19) ; chr12:g.109557111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557111C>G , CM000674.2:g.109557111C>G	GRCh38
NC_000012.11:g.109994916C>G , CM000674.1:g.109994916C>G	GRCh37
NC_000012.10:g.108479299C>G	NCBI36
NG_007096.1:g.21387G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.670G>C MANE Select	ENSP00000445920.1:p.Ala224Pro
ENST00000537496.5:c.*235G>C	ENSP00000444793.1:n.*235G>C
ENST00000540016.5:c.514G>C	ENSP00000474582.1:p.Ala172Pro
ENST00000541763.6:c.895G>C	ENSP00000474981.1:n.895G>C
ENST00000544051.5:c.*551G>C	ENSP00000438079.1:n.*551G>C
ENST00000545712.6:c.670G>C	ENSP00000445920.1:p.Ala224Pro
NM_052845.3:c.670G>C	NP_443077.1:p.Ala224Pro
NR_038118.1:n.830G>C
XM_011538266.1:c.*17G>C	XP_011536568.1:n.*17G>C
XM_011538267.1:c.*17G>C	XP_011536569.1:n.*17G>C
XM_011538268.1:c.397G>C	XP_011536570.1:p.Ala133Pro
XM_011538269.1:c.394G>C	XP_011536571.1:p.Ala132Pro
XM_011538267.3:c.*17G>C	XP_011536569.1:n.*17G>C
XM_011538268.2:c.397G>C	XP_011536570.1:p.Ala133Pro
XM_011538269.2:c.394G>C	XP_011536571.1:p.Ala132Pro
NM_052845.4:c.670G>C MANE Select	NP_443077.1:p.Ala224Pro
NR_038118.2:n.781G>C