Canonical Allele Identifier: CA386635724

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994924A>C (hg19) ; chr12:g.109557119A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557119A>C , CM000674.2:g.109557119A>C	GRCh38
NC_000012.11:g.109994924A>C , CM000674.1:g.109994924A>C	GRCh37
NC_000012.10:g.108479307A>C	NCBI36
NG_007096.1:g.21379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.662T>G MANE Select	ENSP00000445920.1:p.Phe221Cys
ENST00000537496.5:c.*227T>G	ENSP00000444793.1:n.*227T>G
ENST00000540016.5:c.506T>G	ENSP00000474582.1:p.Phe169Cys
ENST00000541763.6:c.887T>G	ENSP00000474981.1:n.887T>G
ENST00000544051.5:c.*543T>G	ENSP00000438079.1:n.*543T>G
ENST00000545712.6:c.662T>G	ENSP00000445920.1:p.Phe221Cys
NM_052845.3:c.662T>G	NP_443077.1:p.Phe221Cys
NR_038118.1:n.822T>G
XM_011538266.1:c.*9T>G	XP_011536568.1:n.*9T>G
XM_011538267.1:c.*9T>G	XP_011536569.1:n.*9T>G
XM_011538268.1:c.389T>G	XP_011536570.1:p.Phe130Cys
XM_011538269.1:c.386T>G	XP_011536571.1:p.Phe129Cys
XM_011538267.3:c.*9T>G	XP_011536569.1:n.*9T>G
XM_011538268.2:c.389T>G	XP_011536570.1:p.Phe130Cys
XM_011538269.2:c.386T>G	XP_011536571.1:p.Phe129Cys
NM_052845.4:c.662T>G MANE Select	NP_443077.1:p.Phe221Cys
NR_038118.2:n.773T>G