Canonical Allele Identifier: CA433164507
Gene: SLC25A38 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.39435965G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394474G>T , CM000665.2:g.39394474G>T GRCh38
NC_000003.11:g.39435965G>T , CM000665.1:g.39435965G>T GRCh37
NC_000003.10:g.39410969G>T NCBI36
NG_016931.1:g.16151G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642683.1:c.642G>T ENSP00000495376.1:p.Leu214=
ENST00000643672.1:c.639G>T ENSP00000494532.1:p.Leu213=
ENST00000645280.1:c.636G>T ENSP00000496690.1:p.Leu212=
ENST00000648579.1:c.746G>T ENSP00000497638.1:p.Trp249Leu
ENST00000650617.1:c.690G>T MANE Select ENSP00000497532.1:p.Leu230=
ENST00000273158.8:c.690G>T ENSP00000273158.3:p.Leu230=
NM_017875.2:c.690G>T NP_060345.2:p.Leu230=
XM_006713214.1:c.678G>T XP_006713277.1:p.Leu226=
XM_011533869.1:c.672G>T XP_011532171.1:p.Leu224=
XM_011533870.1:c.639G>T XP_011532172.1:p.Leu213=
XM_011533871.1:c.510G>T XP_011532173.1:p.Leu170=
NM_001354798.1:c.626-1924G>T NP_001341727.1:n.626-1924G>T
NM_017875.4:c.690G>T MANE Select NP_060345.2:p.Leu230=
XM_006713214.2:c.678G>T XP_006713277.1:p.Leu226=
XM_011533869.2:c.672G>T XP_011532171.1:p.Leu224=
XM_024453611.1:c.636G>T XP_024309379.1:p.Leu212=
NM_001354798.2:c.626-1924G>T NP_001341727.1:n.626-1924G>T