Canonical Allele Identifier: CA386636835

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2501701
• ClinVar RCV Id: RCV003227567
• MyVariant Identifiers: chr12:g.109998857C>G (hg19) ; chr12:g.109561052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561052C>G , CM000674.2:g.109561052C>G	GRCh38
NC_000012.11:g.109998857C>G , CM000674.1:g.109998857C>G	GRCh37
NC_000012.10:g.108483240C>G	NCBI36
NG_007096.1:g.17446G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.572G>C MANE Select	ENSP00000445920.1:p.Arg191Pro
ENST00000537496.5:c.*137G>C	ENSP00000444793.1:n.*137G>C
ENST00000540016.5:c.416G>C	ENSP00000474582.1:p.Arg139Pro
ENST00000541763.6:c.797G>C	ENSP00000474981.1:n.797G>C
ENST00000544051.5:c.*453G>C	ENSP00000438079.1:n.*453G>C
ENST00000545712.6:c.572G>C	ENSP00000445920.1:p.Arg191Pro
NM_052845.3:c.572G>C	NP_443077.1:p.Arg191Pro
NR_038118.1:n.732G>C
XM_011538266.1:c.417G>C	XP_011536568.1:p.Pro139=
XM_011538267.1:c.417G>C	XP_011536569.1:p.Pro139=
XM_011538268.1:c.299G>C	XP_011536570.1:p.Arg100Pro
XM_011538269.1:c.296G>C	XP_011536571.1:p.Arg99Pro
XM_011538267.3:c.417G>C	XP_011536569.1:p.Pro139=
XM_011538268.2:c.299G>C	XP_011536570.1:p.Arg100Pro
XM_011538269.2:c.296G>C	XP_011536571.1:p.Arg99Pro
XM_024448961.1:c.572G>C	XP_024304729.1:p.Arg191Pro
NM_052845.4:c.572G>C MANE Select	NP_443077.1:p.Arg191Pro
NR_038118.2:n.683G>C