Canonical Allele Identifier: CA386639501

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006597C>G (hg19) ; chr12:g.109568792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568792C>G , CM000674.2:g.109568792C>G	GRCh38
NC_000012.11:g.110006597C>G , CM000674.1:g.110006597C>G	GRCh37
NC_000012.10:g.108490980C>G	NCBI36
NG_007096.1:g.9706G>C
NG_007702.1:g.98C>G , LRG_156:g.98C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.268G>C MANE Select	ENSP00000445920.1:p.Asp90His
ENST00000420167.6:c.*97G>C	ENSP00000416136.2:n.*97G>C
ENST00000503497.7:c.268G>C	ENSP00000474881.1:p.Asp90His
ENST00000536760.1:n.271G>C
ENST00000537236.2:c.268G>C	ENSP00000483818.1:p.Asp90His
ENST00000537496.5:c.268G>C	ENSP00000444793.1:p.Asp90His
ENST00000540016.5:c.135-3616G>C	ENSP00000474582.1:n.135-3616G>C
ENST00000541763.6:c.268G>C	ENSP00000474981.1:p.Asp90His
ENST00000542390.5:n.295G>C
ENST00000544051.5:c.*62G>C	ENSP00000438079.1:n.*62G>C
ENST00000545712.6:c.268G>C	ENSP00000445920.1:p.Asp90His
NM_052845.3:c.268G>C	NP_443077.1:p.Asp90His
NR_038118.1:n.341G>C
XM_024448961.1:c.268G>C	XP_024304729.1:p.Asp90His
NM_052845.4:c.268G>C MANE Select	NP_443077.1:p.Asp90His
NR_038118.2:n.292G>C