Canonical Allele Identifier: CA386635562

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994887A>C (hg19) ; chr12:g.109557082A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557082A>C , CM000674.2:g.109557082A>C	GRCh38
NC_000012.11:g.109994887A>C , CM000674.1:g.109994887A>C	GRCh37
NC_000012.10:g.108479270A>C	NCBI36
NG_007096.1:g.21416T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.699T>G MANE Select	ENSP00000445920.1:p.Asn233Lys
ENST00000537496.5:c.*264T>G	ENSP00000444793.1:n.*264T>G
ENST00000540016.5:c.543T>G	ENSP00000474582.1:p.Asn181Lys
ENST00000541763.6:c.924T>G	ENSP00000474981.1:n.924T>G
ENST00000544051.5:c.*580T>G	ENSP00000438079.1:n.*580T>G
ENST00000545712.6:c.699T>G	ENSP00000445920.1:p.Asn233Lys
NM_052845.3:c.699T>G	NP_443077.1:p.Asn233Lys
NR_038118.1:n.859T>G
XM_011538266.1:c.*46T>G	XP_011536568.1:n.*46T>G
XM_011538267.1:c.*46T>G	XP_011536569.1:n.*46T>G
XM_011538268.1:c.426T>G	XP_011536570.1:p.Asn142Lys
XM_011538269.1:c.423T>G	XP_011536571.1:p.Asn141Lys
XM_011538267.3:c.*46T>G	XP_011536569.1:n.*46T>G
XM_011538268.2:c.426T>G	XP_011536570.1:p.Asn142Lys
XM_011538269.2:c.423T>G	XP_011536571.1:p.Asn141Lys
NM_052845.4:c.699T>G MANE Select	NP_443077.1:p.Asn233Lys
NR_038118.2:n.810T>G