Canonical Allele Identifier: CA386635791

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994940G>C (hg19) ; chr12:g.109557135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557135G>C , CM000674.2:g.109557135G>C	GRCh38
NC_000012.11:g.109994940G>C , CM000674.1:g.109994940G>C	GRCh37
NC_000012.10:g.108479323G>C	NCBI36
NG_007096.1:g.21363C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.646C>G MANE Select	ENSP00000445920.1:p.Leu216Val
ENST00000537496.5:c.*211C>G	ENSP00000444793.1:n.*211C>G
ENST00000540016.5:c.490C>G	ENSP00000474582.1:p.Leu164Val
ENST00000541763.6:c.871C>G	ENSP00000474981.1:n.871C>G
ENST00000544051.5:c.*527C>G	ENSP00000438079.1:n.*527C>G
ENST00000545712.6:c.646C>G	ENSP00000445920.1:p.Leu216Val
NM_052845.3:c.646C>G	NP_443077.1:p.Leu216Val
NR_038118.1:n.806C>G
XM_011538266.1:c.491C>G	XP_011536568.1:p.Thr164Ser
XM_011538267.1:c.491C>G	XP_011536569.1:p.Thr164Ser
XM_011538268.1:c.373C>G	XP_011536570.1:p.Leu125Val
XM_011538269.1:c.370C>G	XP_011536571.1:p.Leu124Val
XM_011538267.3:c.491C>G	XP_011536569.1:p.Thr164Ser
XM_011538268.2:c.373C>G	XP_011536570.1:p.Leu125Val
XM_011538269.2:c.370C>G	XP_011536571.1:p.Leu124Val
NM_052845.4:c.646C>G MANE Select	NP_443077.1:p.Leu216Val
NR_038118.2:n.757C>G