Canonical Allele Identifier: CA386639592

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006621C>G (hg19) ; chr12:g.109568816C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568816C>G , CM000674.2:g.109568816C>G	GRCh38
NC_000012.11:g.110006621C>G , CM000674.1:g.110006621C>G	GRCh37
NC_000012.10:g.108491004C>G	NCBI36
NG_007096.1:g.9682G>C
NG_007702.1:g.122C>G , LRG_156:g.122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.244G>C MANE Select	ENSP00000445920.1:p.Val82Leu
ENST00000420167.6:c.*73G>C	ENSP00000416136.2:n.*73G>C
ENST00000503497.7:c.244G>C	ENSP00000474881.1:p.Val82Leu
ENST00000536760.1:n.247G>C
ENST00000537236.2:c.244G>C	ENSP00000483818.1:p.Val82Leu
ENST00000537496.5:c.244G>C	ENSP00000444793.1:p.Val82Leu
ENST00000540016.5:c.135-3640G>C	ENSP00000474582.1:n.135-3640G>C
ENST00000541763.6:c.244G>C	ENSP00000474981.1:p.Val82Leu
ENST00000542390.5:n.271G>C
ENST00000544051.5:c.*38G>C	ENSP00000438079.1:n.*38G>C
ENST00000545712.6:c.244G>C	ENSP00000445920.1:p.Val82Leu
NM_052845.3:c.244G>C	NP_443077.1:p.Val82Leu
NR_038118.1:n.317G>C
XM_024448961.1:c.244G>C	XP_024304729.1:p.Val82Leu
NM_052845.4:c.244G>C MANE Select	NP_443077.1:p.Val82Leu
NR_038118.2:n.268G>C