Canonical Allele Identifier: CA386639586

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006620A>G (hg19) ; chr12:g.109568815A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568815A>G , CM000674.2:g.109568815A>G	GRCh38
NC_000012.11:g.110006620A>G , CM000674.1:g.110006620A>G	GRCh37
NC_000012.10:g.108491003A>G	NCBI36
NG_007096.1:g.9683T>C
NG_007702.1:g.121A>G , LRG_156:g.121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.245T>C MANE Select	ENSP00000445920.1:p.Val82Ala
ENST00000420167.6:c.*74T>C	ENSP00000416136.2:n.*74T>C
ENST00000503497.7:c.245T>C	ENSP00000474881.1:p.Val82Ala
ENST00000536760.1:n.248T>C
ENST00000537236.2:c.245T>C	ENSP00000483818.1:p.Val82Ala
ENST00000537496.5:c.245T>C	ENSP00000444793.1:p.Val82Ala
ENST00000540016.5:c.135-3639T>C	ENSP00000474582.1:n.135-3639T>C
ENST00000541763.6:c.245T>C	ENSP00000474981.1:p.Val82Ala
ENST00000542390.5:n.272T>C
ENST00000544051.5:c.*39T>C	ENSP00000438079.1:n.*39T>C
ENST00000545712.6:c.245T>C	ENSP00000445920.1:p.Val82Ala
NM_052845.3:c.245T>C	NP_443077.1:p.Val82Ala
NR_038118.1:n.318T>C
XM_024448961.1:c.245T>C	XP_024304729.1:p.Val82Ala
NM_052845.4:c.245T>C MANE Select	NP_443077.1:p.Val82Ala
NR_038118.2:n.269T>C