Canonical Allele Identifier: CA607286347

Gene: MMAB

Linked Data

• dbSNP Id: rs1184186424
• gnomAD v2: 12-110006534-C-T
• gnomAD v4: 12-109568729-C-T
• MyVariant Identifiers: chr12:g.110006534C>T (hg19) ; chr12:g.109568729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568729C>T , CM000674.2:g.109568729C>T	GRCh38
NC_000012.11:g.110006534C>T , CM000674.1:g.110006534C>T	GRCh37
NC_000012.10:g.108490917C>T	NCBI36
NG_007096.1:g.9769G>A
NG_007702.1:g.35C>T , LRG_156:g.35C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.290+41G>A MANE Select	ENSP00000445920.1:n.290+41G>A
ENST00000420167.6:c.*119+41G>A	ENSP00000416136.2:n.*119+41G>A
ENST00000503497.7:c.290+41G>A	ENSP00000474881.1:n.290+41G>A
ENST00000536760.1:n.293+41G>A
ENST00000537236.2:c.*37G>A	ENSP00000483818.1:n.*37G>A
ENST00000537496.5:c.290+41G>A	ENSP00000444793.1:n.290+41G>A
ENST00000540016.5:c.135-3553G>A	ENSP00000474582.1:n.135-3553G>A
ENST00000541763.6:c.290+41G>A	ENSP00000474981.1:n.290+41G>A
ENST00000542390.5:n.317+41G>A
ENST00000544051.5:c.*84+41G>A	ENSP00000438079.1:n.*84+41G>A
ENST00000545712.6:c.290+41G>A	ENSP00000445920.1:n.290+41G>A
NM_052845.3:c.290+41G>A	NP_443077.1:n.290+41G>A
NR_038118.1:n.363+41G>A
XM_011538266.1:c.-427G>A	XP_011536568.1:n.-427G>A
XM_011538267.1:c.-316G>A	XP_011536569.1:n.-316G>A
XM_011538269.1:c.-461G>A	XP_011536571.1:n.-461G>A
XM_011538267.3:c.-316G>A	XP_011536569.1:n.-316G>A
XM_011538269.2:c.-461G>A	XP_011536571.1:n.-461G>A
XM_024448961.1:c.290+41G>A	XP_024304729.1:n.290+41G>A
NM_052845.4:c.290+41G>A MANE Select	NP_443077.1:n.290+41G>A
NR_038118.2:n.314+41G>A