Canonical Allele Identifier: CA386635504

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557060-T-A
• MyVariant Identifiers: chr12:g.109994865T>A (hg19) ; chr12:g.109557060T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557060T>A , CM000674.2:g.109557060T>A	GRCh38
NC_000012.11:g.109994865T>A , CM000674.1:g.109994865T>A	GRCh37
NC_000012.10:g.108479248T>A	NCBI36
NG_007096.1:g.21438A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.721A>T MANE Select	ENSP00000445920.1:p.Asn241Tyr
ENST00000537496.5:c.*286A>T	ENSP00000444793.1:n.*286A>T
ENST00000540016.5:c.565A>T	ENSP00000474582.1:p.Asn189Tyr
ENST00000541763.6:c.946A>T	ENSP00000474981.1:n.946A>T
ENST00000544051.5:c.*602A>T	ENSP00000438079.1:n.*602A>T
ENST00000545712.6:c.721A>T	ENSP00000445920.1:p.Asn241Tyr
NM_052845.3:c.721A>T	NP_443077.1:p.Asn241Tyr
NR_038118.1:n.881A>T
XM_011538266.1:c.*68A>T	XP_011536568.1:n.*68A>T
XM_011538267.1:c.*68A>T	XP_011536569.1:n.*68A>T
XM_011538268.1:c.448A>T	XP_011536570.1:p.Asn150Tyr
XM_011538269.1:c.445A>T	XP_011536571.1:p.Asn149Tyr
XM_011538267.3:c.*68A>T	XP_011536569.1:n.*68A>T
XM_011538268.2:c.448A>T	XP_011536570.1:p.Asn150Tyr
XM_011538269.2:c.445A>T	XP_011536571.1:p.Asn149Tyr
NM_052845.4:c.721A>T MANE Select	NP_443077.1:p.Asn241Tyr
NR_038118.2:n.832A>T