Canonical Allele Identifier: CA386639728

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006641C>G (hg19) ; chr12:g.109568836C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568836C>G , CM000674.2:g.109568836C>G	GRCh38
NC_000012.11:g.110006641C>G , CM000674.1:g.110006641C>G	GRCh37
NC_000012.10:g.108491024C>G	NCBI36
NG_007096.1:g.9662G>C
NG_007702.1:g.142C>G , LRG_156:g.142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.224G>C MANE Select	ENSP00000445920.1:p.Arg75Thr
ENST00000420167.6:c.*53G>C	ENSP00000416136.2:n.*53G>C
ENST00000503497.7:c.224G>C	ENSP00000474881.1:p.Arg75Thr
ENST00000536760.1:n.227G>C
ENST00000537236.2:c.224G>C	ENSP00000483818.1:p.Arg75Thr
ENST00000537496.5:c.224G>C	ENSP00000444793.1:p.Arg75Thr
ENST00000540016.5:c.135-3660G>C	ENSP00000474582.1:n.135-3660G>C
ENST00000541763.6:c.224G>C	ENSP00000474981.1:p.Arg75Thr
ENST00000542390.5:n.251G>C
ENST00000544051.5:c.*18G>C	ENSP00000438079.1:n.*18G>C
ENST00000545712.6:c.224G>C	ENSP00000445920.1:p.Arg75Thr
NM_052845.3:c.224G>C	NP_443077.1:p.Arg75Thr
NR_038118.1:n.297G>C
XM_024448961.1:c.224G>C	XP_024304729.1:p.Arg75Thr
NM_052845.4:c.224G>C MANE Select	NP_443077.1:p.Arg75Thr
NR_038118.2:n.248G>C