Canonical Allele Identifier: CA386635547

Gene: MMAB

Linked Data

• dbSNP Id: rs1175831214
• gnomAD v2: 12-109994882-T-C
• gnomAD v4: 12-109557077-T-C
• MyVariant Identifiers: chr12:g.109994882T>C (hg19) ; chr12:g.109557077T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557077T>C , CM000674.2:g.109557077T>C	GRCh38
NC_000012.11:g.109994882T>C , CM000674.1:g.109994882T>C	GRCh37
NC_000012.10:g.108479265T>C	NCBI36
NG_007096.1:g.21421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.704A>G MANE Select	ENSP00000445920.1:p.Glu235Gly
ENST00000537496.5:c.*269A>G	ENSP00000444793.1:n.*269A>G
ENST00000540016.5:c.548A>G	ENSP00000474582.1:p.Glu183Gly
ENST00000541763.6:c.929A>G	ENSP00000474981.1:n.929A>G
ENST00000544051.5:c.*585A>G	ENSP00000438079.1:n.*585A>G
ENST00000545712.6:c.704A>G	ENSP00000445920.1:p.Glu235Gly
NM_052845.3:c.704A>G	NP_443077.1:p.Glu235Gly
NR_038118.1:n.864A>G
XM_011538266.1:c.*51A>G	XP_011536568.1:n.*51A>G
XM_011538267.1:c.*51A>G	XP_011536569.1:n.*51A>G
XM_011538268.1:c.431A>G	XP_011536570.1:p.Glu144Gly
XM_011538269.1:c.428A>G	XP_011536571.1:p.Glu143Gly
XM_011538267.3:c.*51A>G	XP_011536569.1:n.*51A>G
XM_011538268.2:c.431A>G	XP_011536570.1:p.Glu144Gly
XM_011538269.2:c.428A>G	XP_011536571.1:p.Glu143Gly
NM_052845.4:c.704A>G MANE Select	NP_443077.1:p.Glu235Gly
NR_038118.2:n.815A>G