Canonical Allele Identifier: CA386635491

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994860G>C (hg19) ; chr12:g.109557055G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557055G>C , CM000674.2:g.109557055G>C	GRCh38
NC_000012.11:g.109994860G>C , CM000674.1:g.109994860G>C	GRCh37
NC_000012.10:g.108479243G>C	NCBI36
NG_007096.1:g.21443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.726C>G MANE Select	ENSP00000445920.1:p.Asp242Glu
ENST00000537496.5:c.*291C>G	ENSP00000444793.1:n.*291C>G
ENST00000540016.5:c.570C>G	ENSP00000474582.1:p.Asp190Glu
ENST00000541763.6:c.951C>G	ENSP00000474981.1:n.951C>G
ENST00000544051.5:c.*607C>G	ENSP00000438079.1:n.*607C>G
ENST00000545712.6:c.726C>G	ENSP00000445920.1:p.Asp242Glu
NM_052845.3:c.726C>G	NP_443077.1:p.Asp242Glu
NR_038118.1:n.886C>G
XM_011538266.1:c.*73C>G	XP_011536568.1:n.*73C>G
XM_011538267.1:c.*73C>G	XP_011536569.1:n.*73C>G
XM_011538268.1:c.453C>G	XP_011536570.1:p.Asp151Glu
XM_011538269.1:c.450C>G	XP_011536571.1:p.Asp150Glu
XM_011538267.3:c.*73C>G	XP_011536569.1:n.*73C>G
XM_011538268.2:c.453C>G	XP_011536570.1:p.Asp151Glu
XM_011538269.2:c.450C>G	XP_011536571.1:p.Asp150Glu
NM_052845.4:c.726C>G MANE Select	NP_443077.1:p.Asp242Glu
NR_038118.2:n.837C>G