Canonical Allele Identifier: CA243448266

Gene: MMAB

Linked Data

• dbSNP Id: rs374857423
• gnomAD v4: 12-109561194-C-G
• MyVariant Identifiers: chr12:g.109998999C>G (hg19) ; chr12:g.109561194C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561194C>G , CM000674.2:g.109561194C>G	GRCh38
NC_000012.11:g.109998999C>G , CM000674.1:g.109998999C>G	GRCh37
NC_000012.10:g.108483382C>G	NCBI36
NG_007096.1:g.17304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.520-90G>C MANE Select	ENSP00000445920.1:n.520-90G>C
ENST00000537496.5:c.*84+49G>C	ENSP00000444793.1:n.*84+49G>C
ENST00000540016.5:c.364-90G>C	ENSP00000474582.1:n.364-90G>C
ENST00000541763.6:c.655G>C	ENSP00000474981.1:n.655G>C
ENST00000544051.5:c.*400+49G>C	ENSP00000438079.1:n.*400+49G>C
ENST00000545712.6:c.520-90G>C	ENSP00000445920.1:n.520-90G>C
NM_052845.3:c.520-90G>C	NP_443077.1:n.520-90G>C
NR_038118.1:n.679+49G>C
XM_011538266.1:c.364+49G>C	XP_011536568.1:n.364+49G>C
XM_011538267.1:c.364+49G>C	XP_011536569.1:n.364+49G>C
XM_011538268.1:c.247-90G>C	XP_011536570.1:n.247-90G>C
XM_011538269.1:c.244-90G>C	XP_011536571.1:n.244-90G>C
XM_011538267.3:c.364+49G>C	XP_011536569.1:n.364+49G>C
XM_011538268.2:c.247-90G>C	XP_011536570.1:n.247-90G>C
XM_011538269.2:c.244-90G>C	XP_011536571.1:n.244-90G>C
XM_024448961.1:c.520-90G>C	XP_024304729.1:n.520-90G>C
NM_052845.4:c.520-90G>C MANE Select	NP_443077.1:n.520-90G>C
NR_038118.2:n.630+49G>C