Canonical Allele Identifier: CA386635737

Gene: MMAB

Linked Data

• ClinVar Variation Id: 3065041
• ClinVar RCV Id: RCV003990118
• dbSNP Id: rs1281109870
• gnomAD v2: 12-109994927-A-G
• gnomAD v4: 12-109557122-A-G
• MyVariant Identifiers: chr12:g.109994927A>G (hg19) ; chr12:g.109557122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557122A>G , CM000674.2:g.109557122A>G	GRCh38
NC_000012.11:g.109994927A>G , CM000674.1:g.109994927A>G	GRCh37
NC_000012.10:g.108479310A>G	NCBI36
NG_007096.1:g.21376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.659T>C MANE Select	ENSP00000445920.1:p.Leu220Pro
ENST00000537496.5:c.*224T>C	ENSP00000444793.1:n.*224T>C
ENST00000540016.5:c.503T>C	ENSP00000474582.1:p.Leu168Pro
ENST00000541763.6:c.884T>C	ENSP00000474981.1:n.884T>C
ENST00000544051.5:c.*540T>C	ENSP00000438079.1:n.*540T>C
ENST00000545712.6:c.659T>C	ENSP00000445920.1:p.Leu220Pro
NM_052845.3:c.659T>C	NP_443077.1:p.Leu220Pro
NR_038118.1:n.819T>C
XM_011538266.1:c.*6T>C	XP_011536568.1:n.*6T>C
XM_011538267.1:c.*6T>C	XP_011536569.1:n.*6T>C
XM_011538268.1:c.386T>C	XP_011536570.1:p.Leu129Pro
XM_011538269.1:c.383T>C	XP_011536571.1:p.Leu128Pro
XM_011538267.3:c.*6T>C	XP_011536569.1:n.*6T>C
XM_011538268.2:c.386T>C	XP_011536570.1:p.Leu129Pro
XM_011538269.2:c.383T>C	XP_011536571.1:p.Leu128Pro
NM_052845.4:c.659T>C MANE Select	NP_443077.1:p.Leu220Pro
NR_038118.2:n.770T>C