Canonical Allele Identifier: CA386636903

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2954625
• ClinVar RCV Id: RCV003815824
• gnomAD v4: 12-109561067-C-G
• MyVariant Identifiers: chr12:g.109998872C>G (hg19) ; chr12:g.109561067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561067C>G , CM000674.2:g.109561067C>G	GRCh38
NC_000012.11:g.109998872C>G , CM000674.1:g.109998872C>G	GRCh37
NC_000012.10:g.108483255C>G	NCBI36
NG_007096.1:g.17431G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.557G>C MANE Select	ENSP00000445920.1:p.Arg186Pro
ENST00000537496.5:c.*122G>C	ENSP00000444793.1:n.*122G>C
ENST00000540016.5:c.401G>C	ENSP00000474582.1:p.Arg134Pro
ENST00000541763.6:c.782G>C	ENSP00000474981.1:n.782G>C
ENST00000544051.5:c.*438G>C	ENSP00000438079.1:n.*438G>C
ENST00000545712.6:c.557G>C	ENSP00000445920.1:p.Arg186Pro
NM_052845.3:c.557G>C	NP_443077.1:p.Arg186Pro
NR_038118.1:n.717G>C
XM_011538266.1:c.402G>C	XP_011536568.1:p.Pro134=
XM_011538267.1:c.402G>C	XP_011536569.1:p.Pro134=
XM_011538268.1:c.284G>C	XP_011536570.1:p.Arg95Pro
XM_011538269.1:c.281G>C	XP_011536571.1:p.Arg94Pro
XM_011538267.3:c.402G>C	XP_011536569.1:p.Pro134=
XM_011538268.2:c.284G>C	XP_011536570.1:p.Arg95Pro
XM_011538269.2:c.281G>C	XP_011536571.1:p.Arg94Pro
XM_024448961.1:c.557G>C	XP_024304729.1:p.Arg186Pro
NM_052845.4:c.557G>C MANE Select	NP_443077.1:p.Arg186Pro
NR_038118.2:n.668G>C