Canonical Allele Identifier: CA6778745

Gene: MMAB

Linked Data

• dbSNP Id: rs746005025
• ExAC: 12:109994842 C / G
• gnomAD v2: 12-109994842-C-G
• gnomAD v3: 12-109557037-C-G
• gnomAD v4: 12-109557037-C-G
• MyVariant Identifiers: chr12:g.109994842C>G (hg19) ; chr12:g.109557037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557037C>G , CM000674.2:g.109557037C>G	GRCh38
NC_000012.11:g.109994842C>G , CM000674.1:g.109994842C>G	GRCh37
NC_000012.10:g.108479225C>G	NCBI36
NG_007096.1:g.21461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.744G>C MANE Select	ENSP00000445920.1:p.Glu248Asp
ENST00000537496.5:c.*309G>C	ENSP00000444793.1:n.*309G>C
ENST00000540016.5:c.588G>C	ENSP00000474582.1:p.Glu196Asp
ENST00000541763.6:c.969G>C	ENSP00000474981.1:n.969G>C
ENST00000544051.5:c.*625G>C	ENSP00000438079.1:n.*625G>C
ENST00000545712.6:c.744G>C	ENSP00000445920.1:p.Glu248Asp
NM_052845.3:c.744G>C	NP_443077.1:p.Glu248Asp
NR_038118.1:n.904G>C
XM_011538266.1:c.*91G>C	XP_011536568.1:n.*91G>C
XM_011538267.1:c.*91G>C	XP_011536569.1:n.*91G>C
XM_011538268.1:c.471G>C	XP_011536570.1:p.Glu157Asp
XM_011538269.1:c.468G>C	XP_011536571.1:p.Glu156Asp
XM_011538267.3:c.*91G>C	XP_011536569.1:n.*91G>C
XM_011538268.2:c.471G>C	XP_011536570.1:p.Glu157Asp
XM_011538269.2:c.468G>C	XP_011536571.1:p.Glu156Asp
NM_052845.4:c.744G>C MANE Select	NP_443077.1:p.Glu248Asp
NR_038118.2:n.855G>C