Canonical Allele Identifier: CA6778760

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2143011
• ClinVar RCV Id: RCV003076510
• dbSNP Id: rs149041607
• ExAC: 12:109994897 T / G
• gnomAD v2: 12-109994897-T-G
• gnomAD v3: 12-109557092-T-G
• gnomAD v4: 12-109557092-T-G
• MyVariant Identifiers: chr12:g.109994897T>G (hg19) ; chr12:g.109557092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557092T>G , CM000674.2:g.109557092T>G	GRCh38
NC_000012.11:g.109994897T>G , CM000674.1:g.109994897T>G	GRCh37
NC_000012.10:g.108479280T>G	NCBI36
NG_007096.1:g.21406A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.689A>C MANE Select	ENSP00000445920.1:p.Lys230Thr
ENST00000537496.5:c.*254A>C	ENSP00000444793.1:n.*254A>C
ENST00000540016.5:c.533A>C	ENSP00000474582.1:p.Lys178Thr
ENST00000541763.6:c.914A>C	ENSP00000474981.1:n.914A>C
ENST00000544051.5:c.*570A>C	ENSP00000438079.1:n.*570A>C
ENST00000545712.6:c.689A>C	ENSP00000445920.1:p.Lys230Thr
NM_052845.3:c.689A>C	NP_443077.1:p.Lys230Thr
NR_038118.1:n.849A>C
XM_011538266.1:c.*36A>C	XP_011536568.1:n.*36A>C
XM_011538267.1:c.*36A>C	XP_011536569.1:n.*36A>C
XM_011538268.1:c.416A>C	XP_011536570.1:p.Lys139Thr
XM_011538269.1:c.413A>C	XP_011536571.1:p.Lys138Thr
XM_011538267.3:c.*36A>C	XP_011536569.1:n.*36A>C
XM_011538268.2:c.416A>C	XP_011536570.1:p.Lys139Thr
XM_011538269.2:c.413A>C	XP_011536571.1:p.Lys138Thr
NM_052845.4:c.689A>C MANE Select	NP_443077.1:p.Lys230Thr
NR_038118.2:n.800A>C