Canonical Allele Identifier: CA352204981
Community Standard Title: NM_017875.4(SLC25A38):c.683G>C (p.Gly228Ala)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394467G>C , CM000665.2:g.39394467G>C GRCh38
NC_000003.11:g.39435958G>C , CM000665.1:g.39435958G>C GRCh37
NC_000003.10:g.39410962G>C NCBI36
NG_016931.1:g.16144G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.683G>C MANE Select NP_060345.2:p.Gly228Ala
ENST00000650617.1:c.683G>C MANE Select ENSP00000497532.1:p.Gly228Ala
NM_001354798.1:c.626-1931G>C NP_001341727.1:n.626-1931G>C
NM_001354798.2:c.626-1931G>C NP_001341727.1:n.626-1931G>C
NM_017875.2:c.683G>C NP_060345.2:p.Gly228Ala
ENST00000273158.8:c.683G>C ENSP00000273158.3:p.Gly228Ala
ENST00000642683.1:c.635G>C ENSP00000495376.1:p.Gly212Ala
ENST00000643672.1:c.632G>C ENSP00000494532.1:p.Gly211Ala
ENST00000645280.1:c.629G>C ENSP00000496690.1:p.Gly210Ala
ENST00000648579.1:c.739G>C ENSP00000497638.1:p.Val247Leu
XM_006713214.1:c.671G>C XP_006713277.1:p.Gly224Ala
XM_006713214.2:c.671G>C XP_006713277.1:p.Gly224Ala
XM_011533869.1:c.665G>C XP_011532171.1:p.Gly222Ala
XM_011533869.2:c.665G>C XP_011532171.1:p.Gly222Ala
XM_011533870.1:c.632G>C XP_011532172.1:p.Gly211Ala
XM_011533871.1:c.503G>C XP_011532173.1:p.Gly168Ala
XM_024453611.1:c.629G>C XP_024309379.1:p.Gly210Ala