Canonical Allele Identifier: CA386635712

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994921G>T (hg19) ; chr12:g.109557116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557116G>T , CM000674.2:g.109557116G>T	GRCh38
NC_000012.11:g.109994921G>T , CM000674.1:g.109994921G>T	GRCh37
NC_000012.10:g.108479304G>T	NCBI36
NG_007096.1:g.21382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.665C>A MANE Select	ENSP00000445920.1:p.Thr222Lys
ENST00000537496.5:c.*230C>A	ENSP00000444793.1:n.*230C>A
ENST00000540016.5:c.509C>A	ENSP00000474582.1:p.Thr170Lys
ENST00000541763.6:c.890C>A	ENSP00000474981.1:n.890C>A
ENST00000544051.5:c.*546C>A	ENSP00000438079.1:n.*546C>A
ENST00000545712.6:c.665C>A	ENSP00000445920.1:p.Thr222Lys
NM_052845.3:c.665C>A	NP_443077.1:p.Thr222Lys
NR_038118.1:n.825C>A
XM_011538266.1:c.*12C>A	XP_011536568.1:n.*12C>A
XM_011538267.1:c.*12C>A	XP_011536569.1:n.*12C>A
XM_011538268.1:c.392C>A	XP_011536570.1:p.Thr131Lys
XM_011538269.1:c.389C>A	XP_011536571.1:p.Thr130Lys
XM_011538267.3:c.*12C>A	XP_011536569.1:n.*12C>A
XM_011538268.2:c.392C>A	XP_011536570.1:p.Thr131Lys
XM_011538269.2:c.389C>A	XP_011536571.1:p.Thr130Lys
NM_052845.4:c.665C>A MANE Select	NP_443077.1:p.Thr222Lys
NR_038118.2:n.776C>A