Canonical Allele Identifier: CA122972

Gene: MAF

Linked Data

• ClinVar Variation Id: 13231
• ClinVar RCV Id: RCV000014136
• dbSNP Id: rs121917735
• MyVariant Identifiers: chr16:g.79632937C>G (hg19) ; chr16:g.79599040C>G (hg38)
• PubMed: PMID:11772997 ; PMID:22345400

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79599040C>G , CM000678.2:g.79599040C>G	GRCh38
NC_000016.9:g.79632937C>G , CM000678.1:g.79632937C>G	GRCh37
NC_000016.8:g.78190438C>G	NCBI36
NG_016440.1:g.6686G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326043.5:c.863G>C MANE Select	ENSP00000327048.4:p.Arg288Pro
ENST00000326043.4:c.863G>C	ENSP00000327048.4:p.Arg288Pro
ENST00000393350.1:c.863G>C	ENSP00000377019.1:p.Arg288Pro
ENST00000569649.1:c.863G>C	ENSP00000455097.1:p.Arg288Pro
NM_001031804.2:c.863G>C	NP_001026974.1:p.Arg288Pro
NM_005360.4:c.863G>C	NP_005351.2:p.Arg288Pro
XM_011523084.1:c.863G>C	XP_011521386.1:p.Arg288Pro
XM_017023233.2:c.863G>C	XP_016878722.1:p.Arg288Pro
XM_017023234.2:c.863G>C	XP_016878723.1:p.Arg288Pro
XM_017023235.2:c.863G>C	XP_016878724.1:p.Arg288Pro
XM_024450279.1:c.863G>C	XP_024306047.1:p.Arg288Pro
XR_001751902.2:n.2913G>C
XR_002957802.1:n.2913G>C
XR_002957803.1:n.2913G>C
XR_002957804.1:n.2913G>C
NM_005360.5:c.863G>C MANE Select	NP_005351.2:p.Arg288Pro
NM_001031804.3:c.863G>C	NP_001026974.1:p.Arg288Pro