Canonical Allele Identifier: CA441717473
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1652419
ClinVar RCV Id: RCV002156165
dbSNP Id: rs2126629831
MyVariant Identifiers: chr4:g.146576352A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145655200A>G , CM000666.2:g.145655200A>G GRCh38
NC_000004.11:g.146576352A>G , CM000666.1:g.146576352A>G GRCh37
NC_000004.10:g.146795802A>G NCBI36
NG_007536.1:g.40903A>G
NG_007536.2:g.61159A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.1023A>G ENSP00000442284.3:p.Lys341=
ENST00000647947.1:c.*807A>G ENSP00000496781.1:n.*807A>G
ENST00000648388.1:c.1023A>G ENSP00000497046.1:p.Lys341=
ENST00000649156.2:c.1023A>G MANE Select ENSP00000497008.1:p.Lys341=
ENST00000649173.1:c.957A>G ENSP00000497871.1:p.Lys319=
ENST00000649704.1:c.1023A>G ENSP00000497680.1:p.Lys341=
ENST00000679563.1:c.1023A>G ENSP00000506503.1:p.Lys341=
ENST00000679930.1:c.*542A>G ENSP00000506293.1:n.*542A>G
ENST00000281317.9:c.1023A>G ENSP00000281317.5:p.Lys341=
ENST00000503730.1:n.433A>G
ENST00000511969.4:c.*154A>G ENSP00000427422.1:n.*154A>G
ENST00000541599.4:c.1023A>G ENSP00000442284.2:p.Lys341=
NM_172250.2:c.1023A>G NP_758454.1:p.Lys341=
XM_011531684.1:c.1023A>G XP_011529986.1:p.Lys341=
XM_011531685.1:c.1023A>G XP_011529987.1:p.Lys341=
XM_011531686.1:c.528A>G XP_011529988.1:p.Lys176=
NM_172250.3:c.1023A>G MANE Select NP_758454.1:p.Lys341=
XM_011531684.3:c.1023A>G XP_011529986.1:p.Lys341=
XM_011531685.2:c.1023A>G XP_011529987.1:p.Lys341=
XM_011531686.2:c.528A>G XP_011529988.1:p.Lys176=
NM_001375644.1:c.1023A>G NP_001362573.1:p.Lys341=