Canonical Allele Identifier: CA386639850

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006665A>C (hg19) ; chr12:g.109568860A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568860A>C , CM000674.2:g.109568860A>C	GRCh38
NC_000012.11:g.110006665A>C , CM000674.1:g.110006665A>C	GRCh37
NC_000012.10:g.108491048A>C	NCBI36
NG_007096.1:g.9638T>G
NG_007702.1:g.166A>C , LRG_156:g.166A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.200T>G MANE Select	ENSP00000445920.1:p.Phe67Cys
ENST00000420167.6:c.*29T>G	ENSP00000416136.2:n.*29T>G
ENST00000503497.7:c.200T>G	ENSP00000474881.1:p.Phe67Cys
ENST00000536760.1:n.203T>G
ENST00000537236.2:c.200T>G	ENSP00000483818.1:p.Phe67Cys
ENST00000537496.5:c.200T>G	ENSP00000444793.1:p.Phe67Cys
ENST00000540016.5:c.135-3684T>G	ENSP00000474582.1:n.135-3684T>G
ENST00000541763.6:c.200T>G	ENSP00000474981.1:p.Phe67Cys
ENST00000542390.5:n.227T>G
ENST00000544051.5:c.138T>G	ENSP00000438079.1:p.Val46=
ENST00000545712.6:c.200T>G	ENSP00000445920.1:p.Phe67Cys
NM_052845.3:c.200T>G	NP_443077.1:p.Phe67Cys
NR_038118.1:n.273T>G
XM_024448961.1:c.200T>G	XP_024304729.1:p.Phe67Cys
NM_052845.4:c.200T>G MANE Select	NP_443077.1:p.Phe67Cys
NR_038118.2:n.224T>G