Canonical Allele Identifier: CA16043516

Gene: MAF

Linked Data

• ClinVar Variation Id: 374075
• ClinVar RCV Id: RCV000415117
• dbSNP Id: rs1057518878
• MyVariant Identifiers: chr16:g.79633612G>C (hg19) ; chr16:g.79599715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79599715G>C , CM000678.2:g.79599715G>C	GRCh38
NC_000016.9:g.79633612G>C , CM000678.1:g.79633612G>C	GRCh37
NC_000016.8:g.78191113G>C	NCBI36
NG_016440.1:g.6011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326043.5:c.188C>G MANE Select	ENSP00000327048.4:p.Pro63Arg
ENST00000326043.4:c.188C>G	ENSP00000327048.4:p.Pro63Arg
ENST00000393350.1:c.188C>G	ENSP00000377019.1:p.Pro63Arg
ENST00000569649.1:c.188C>G	ENSP00000455097.1:p.Pro63Arg
NM_001031804.2:c.188C>G	NP_001026974.1:p.Pro63Arg
NM_005360.4:c.188C>G	NP_005351.2:p.Pro63Arg
XM_011523084.1:c.188C>G	XP_011521386.1:p.Pro63Arg
XM_017023233.2:c.188C>G	XP_016878722.1:p.Pro63Arg
XM_017023234.2:c.188C>G	XP_016878723.1:p.Pro63Arg
XM_017023235.2:c.188C>G	XP_016878724.1:p.Pro63Arg
XM_024450279.1:c.188C>G	XP_024306047.1:p.Pro63Arg
XR_001751902.2:n.2238C>G
XR_002957802.1:n.2238C>G
XR_002957803.1:n.2238C>G
XR_002957804.1:n.2238C>G
NM_005360.5:c.188C>G MANE Select	NP_005351.2:p.Pro63Arg
NM_001031804.3:c.188C>G	NP_001026974.1:p.Pro63Arg