Canonical Allele Identifier: CA386635459

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994844C>T (hg19) ; chr12:g.109557039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557039C>T , CM000674.2:g.109557039C>T	GRCh38
NC_000012.11:g.109994844C>T , CM000674.1:g.109994844C>T	GRCh37
NC_000012.10:g.108479227C>T	NCBI36
NG_007096.1:g.21459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.742G>A MANE Select	ENSP00000445920.1:p.Glu248Lys
ENST00000537496.5:c.*307G>A	ENSP00000444793.1:n.*307G>A
ENST00000540016.5:c.586G>A	ENSP00000474582.1:p.Glu196Lys
ENST00000541763.6:c.967G>A	ENSP00000474981.1:n.967G>A
ENST00000544051.5:c.*623G>A	ENSP00000438079.1:n.*623G>A
ENST00000545712.6:c.742G>A	ENSP00000445920.1:p.Glu248Lys
NM_052845.3:c.742G>A	NP_443077.1:p.Glu248Lys
NR_038118.1:n.902G>A
XM_011538266.1:c.*89G>A	XP_011536568.1:n.*89G>A
XM_011538267.1:c.*89G>A	XP_011536569.1:n.*89G>A
XM_011538268.1:c.469G>A	XP_011536570.1:p.Glu157Lys
XM_011538269.1:c.466G>A	XP_011536571.1:p.Glu156Lys
XM_011538267.3:c.*89G>A	XP_011536569.1:n.*89G>A
XM_011538268.2:c.469G>A	XP_011536570.1:p.Glu157Lys
XM_011538269.2:c.466G>A	XP_011536571.1:p.Glu156Lys
NM_052845.4:c.742G>A MANE Select	NP_443077.1:p.Glu248Lys
NR_038118.2:n.853G>A