Canonical Allele Identifier: CA481710078

Gene: MMAB

Linked Data

• dbSNP Id: rs1319474396
• gnomAD v3: 12-109557073-T-C
• gnomAD v4: 12-109557073-T-C
• MyVariant Identifiers: chr12:g.109994878T>C (hg19) ; chr12:g.109557073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557073T>C , CM000674.2:g.109557073T>C	GRCh38
NC_000012.11:g.109994878T>C , CM000674.1:g.109994878T>C	GRCh37
NC_000012.10:g.108479261T>C	NCBI36
NG_007096.1:g.21425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.708A>G MANE Select	ENSP00000445920.1:p.Lys236=
ENST00000537496.5:c.*273A>G	ENSP00000444793.1:n.*273A>G
ENST00000540016.5:c.552A>G	ENSP00000474582.1:p.Lys184=
ENST00000541763.6:c.933A>G	ENSP00000474981.1:n.933A>G
ENST00000544051.5:c.*589A>G	ENSP00000438079.1:n.*589A>G
ENST00000545712.6:c.708A>G	ENSP00000445920.1:p.Lys236=
NM_052845.3:c.708A>G	NP_443077.1:p.Lys236=
NR_038118.1:n.868A>G
XM_011538266.1:c.*55A>G	XP_011536568.1:n.*55A>G
XM_011538267.1:c.*55A>G	XP_011536569.1:n.*55A>G
XM_011538268.1:c.435A>G	XP_011536570.1:p.Lys145=
XM_011538269.1:c.432A>G	XP_011536571.1:p.Lys144=
XM_011538267.3:c.*55A>G	XP_011536569.1:n.*55A>G
XM_011538268.2:c.435A>G	XP_011536570.1:p.Lys145=
XM_011538269.2:c.432A>G	XP_011536571.1:p.Lys144=
NM_052845.4:c.708A>G MANE Select	NP_443077.1:p.Lys236=
NR_038118.2:n.819A>G