Canonical Allele Identifier: CA386635499

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994863A>C (hg19) ; chr12:g.109557058A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557058A>C , CM000674.2:g.109557058A>C	GRCh38
NC_000012.11:g.109994863A>C , CM000674.1:g.109994863A>C	GRCh37
NC_000012.10:g.108479246A>C	NCBI36
NG_007096.1:g.21440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.723T>G MANE Select	ENSP00000445920.1:p.Asn241Lys
ENST00000537496.5:c.*288T>G	ENSP00000444793.1:n.*288T>G
ENST00000540016.5:c.567T>G	ENSP00000474582.1:p.Asn189Lys
ENST00000541763.6:c.948T>G	ENSP00000474981.1:n.948T>G
ENST00000544051.5:c.*604T>G	ENSP00000438079.1:n.*604T>G
ENST00000545712.6:c.723T>G	ENSP00000445920.1:p.Asn241Lys
NM_052845.3:c.723T>G	NP_443077.1:p.Asn241Lys
NR_038118.1:n.883T>G
XM_011538266.1:c.*70T>G	XP_011536568.1:n.*70T>G
XM_011538267.1:c.*70T>G	XP_011536569.1:n.*70T>G
XM_011538268.1:c.450T>G	XP_011536570.1:p.Asn150Lys
XM_011538269.1:c.447T>G	XP_011536571.1:p.Asn149Lys
XM_011538267.3:c.*70T>G	XP_011536569.1:n.*70T>G
XM_011538268.2:c.450T>G	XP_011536570.1:p.Asn150Lys
XM_011538269.2:c.447T>G	XP_011536571.1:p.Asn149Lys
NM_052845.4:c.723T>G MANE Select	NP_443077.1:p.Asn241Lys
NR_038118.2:n.834T>G