Canonical Allele Identifier: CA312710

Gene: MMAB

Linked Data

• ClinVar Variation Id: 203817
• ClinVar RCV Id: RCV000539204 ; RCV001112609 ; RCV001704966 ; RCV001112610 ; RCV003927724 ; RCV001804921
• dbSNP Id: rs115802744
• ExAC: 12:110009465 G / A
• gnomAD v2: 12-110009465-G-A
• gnomAD v3: 12-109571660-G-A
• gnomAD v4: 12-109571660-G-A
• MyVariant Identifiers: chr12:g.110009465G>A (hg19) ; chr12:g.109571660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109571660G>A , CM000674.2:g.109571660G>A	GRCh38
NC_000012.11:g.110009465G>A , CM000674.1:g.110009465G>A	GRCh37
NC_000012.10:g.108493848G>A	NCBI36
NG_007096.1:g.6838C>T
NG_007702.1:g.2966G>A , LRG_156:g.2966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.185C>T MANE Select	ENSP00000445920.1:p.Thr62Met
ENST00000420167.6:c.185C>T	ENSP00000416136.2:p.Thr62Met
ENST00000503497.7:c.185C>T	ENSP00000474881.1:p.Thr62Met
ENST00000536760.1:n.188C>T
ENST00000537236.2:c.185C>T	ENSP00000483818.1:p.Thr62Met
ENST00000537496.5:c.185C>T	ENSP00000444793.1:p.Thr62Met
ENST00000540016.5:c.134+1687C>T	ENSP00000474582.1:n.134+1687C>T
ENST00000541763.6:c.185C>T	ENSP00000474981.1:p.Thr62Met
ENST00000542390.5:n.212C>T
ENST00000544051.5:c.134+1687C>T	ENSP00000438079.1:n.134+1687C>T
ENST00000545712.6:c.185C>T	ENSP00000445920.1:p.Thr62Met
NM_052845.3:c.185C>T	NP_443077.1:p.Thr62Met
NR_038118.1:n.258C>T
XM_024448961.1:c.185C>T	XP_024304729.1:p.Thr62Met
NM_052845.4:c.185C>T MANE Select	NP_443077.1:p.Thr62Met
NR_038118.2:n.209C>T