Canonical Allele Identifier: CA396535004

Gene: MAF

Linked Data

• ClinVar Variation Id: 1360617
• ClinVar RCV Id: RCV001904986
• dbSNP Id: rs786205221
• MyVariant Identifiers: chr16:g.79632905G>A (hg19) ; chr16:g.79599008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79599008G>A , CM000678.2:g.79599008G>A	GRCh38
NC_000016.9:g.79632905G>A , CM000678.1:g.79632905G>A	GRCh37
NC_000016.8:g.78190406G>A	NCBI36
NG_016440.1:g.6718C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326043.5:c.895C>T MANE Select	ENSP00000327048.4:p.Arg299Cys
ENST00000326043.4:c.895C>T	ENSP00000327048.4:p.Arg299Cys
ENST00000393350.1:c.895C>T	ENSP00000377019.1:p.Arg299Cys
ENST00000569649.1:c.895C>T	ENSP00000455097.1:p.Arg299Cys
NM_001031804.2:c.895C>T	NP_001026974.1:p.Arg299Cys
NM_005360.4:c.895C>T	NP_005351.2:p.Arg299Cys
XM_011523084.1:c.895C>T	XP_011521386.1:p.Arg299Cys
XM_017023233.2:c.895C>T	XP_016878722.1:p.Arg299Cys
XM_017023234.2:c.895C>T	XP_016878723.1:p.Arg299Cys
XM_017023235.2:c.895C>T	XP_016878724.1:p.Arg299Cys
XM_024450279.1:c.895C>T	XP_024306047.1:p.Arg299Cys
XR_001751902.2:n.2945C>T
XR_002957802.1:n.2945C>T
XR_002957803.1:n.2945C>T
XR_002957804.1:n.2945C>T
NM_005360.5:c.895C>T MANE Select	NP_005351.2:p.Arg299Cys
NM_001031804.3:c.895C>T	NP_001026974.1:p.Arg299Cys