Canonical Allele Identifier: CA243448264

Gene: MMAB

Linked Data

• dbSNP Id: rs904522966
• gnomAD v3: 12-109561186-C-A
• gnomAD v4: 12-109561186-C-A
• MyVariant Identifiers: chr12:g.109998991C>A (hg19) ; chr12:g.109561186C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561186C>A , CM000674.2:g.109561186C>A	GRCh38
NC_000012.11:g.109998991C>A , CM000674.1:g.109998991C>A	GRCh37
NC_000012.10:g.108483374C>A	NCBI36
NG_007096.1:g.17312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.520-82G>T MANE Select	ENSP00000445920.1:n.520-82G>T
ENST00000537496.5:c.*84+57G>T	ENSP00000444793.1:n.*84+57G>T
ENST00000540016.5:c.364-82G>T	ENSP00000474582.1:n.364-82G>T
ENST00000541763.6:c.663G>T	ENSP00000474981.1:n.663G>T
ENST00000544051.5:c.*400+57G>T	ENSP00000438079.1:n.*400+57G>T
ENST00000545712.6:c.520-82G>T	ENSP00000445920.1:n.520-82G>T
NM_052845.3:c.520-82G>T	NP_443077.1:n.520-82G>T
NR_038118.1:n.679+57G>T
XM_011538266.1:c.364+57G>T	XP_011536568.1:n.364+57G>T
XM_011538267.1:c.364+57G>T	XP_011536569.1:n.364+57G>T
XM_011538268.1:c.247-82G>T	XP_011536570.1:n.247-82G>T
XM_011538269.1:c.244-82G>T	XP_011536571.1:n.244-82G>T
XM_011538267.3:c.364+57G>T	XP_011536569.1:n.364+57G>T
XM_011538268.2:c.247-82G>T	XP_011536570.1:n.247-82G>T
XM_011538269.2:c.244-82G>T	XP_011536571.1:n.244-82G>T
XM_024448961.1:c.520-82G>T	XP_024304729.1:n.520-82G>T
NM_052845.4:c.520-82G>T MANE Select	NP_443077.1:n.520-82G>T
NR_038118.2:n.630+57G>T