Canonical Allele Identifier: CA386636880

Gene: MMAB

Linked Data

• dbSNP Id: rs1884179041
• gnomAD v4: 12-109561064-G-T
• MyVariant Identifiers: chr12:g.109998869G>T (hg19) ; chr12:g.109561064G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561064G>T , CM000674.2:g.109561064G>T	GRCh38
NC_000012.11:g.109998869G>T , CM000674.1:g.109998869G>T	GRCh37
NC_000012.10:g.108483252G>T	NCBI36
NG_007096.1:g.17434C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.560C>A MANE Select	ENSP00000445920.1:p.Ala187Asp
ENST00000537496.5:c.*125C>A	ENSP00000444793.1:n.*125C>A
ENST00000540016.5:c.404C>A	ENSP00000474582.1:p.Ala135Asp
ENST00000541763.6:c.785C>A	ENSP00000474981.1:n.785C>A
ENST00000544051.5:c.*441C>A	ENSP00000438079.1:n.*441C>A
ENST00000545712.6:c.560C>A	ENSP00000445920.1:p.Ala187Asp
NM_052845.3:c.560C>A	NP_443077.1:p.Ala187Asp
NR_038118.1:n.720C>A
XM_011538266.1:c.405C>A	XP_011536568.1:p.Gly135=
XM_011538267.1:c.405C>A	XP_011536569.1:p.Gly135=
XM_011538268.1:c.287C>A	XP_011536570.1:p.Ala96Asp
XM_011538269.1:c.284C>A	XP_011536571.1:p.Ala95Asp
XM_011538267.3:c.405C>A	XP_011536569.1:p.Gly135=
XM_011538268.2:c.287C>A	XP_011536570.1:p.Ala96Asp
XM_011538269.2:c.284C>A	XP_011536571.1:p.Ala95Asp
XM_024448961.1:c.560C>A	XP_024304729.1:p.Ala187Asp
NM_052845.4:c.560C>A MANE Select	NP_443077.1:p.Ala187Asp
NR_038118.2:n.671C>A