Canonical Allele Identifier: CA2327534

Gene: SLC25A38

Linked Data

• dbSNP Id: rs748574910
• ExAC: 3:39435981 C / T
• gnomAD v2: 3-39435981-C-T
• MyVariant Identifiers: chr3:g.39435981C>T (hg19) ; chr3:g.39394490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394490C>T , CM000665.2:g.39394490C>T	GRCh38
NC_000003.11:g.39435981C>T , CM000665.1:g.39435981C>T	GRCh37
NC_000003.10:g.39410985C>T	NCBI36
NG_016931.1:g.16167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.658C>T	ENSP00000495376.1:p.Gln220Ter
ENST00000643672.1:c.655C>T	ENSP00000494532.1:p.Gln219Ter
ENST00000645280.1:c.652C>T	ENSP00000496690.1:p.Gln218Ter
ENST00000648579.1:c.*3C>T	ENSP00000497638.1:n.*3C>T
ENST00000650617.1:c.706C>T MANE Select	ENSP00000497532.1:p.Gln236Ter
ENST00000273158.8:c.706C>T	ENSP00000273158.3:p.Gln236Ter
NM_017875.2:c.706C>T	NP_060345.2:p.Gln236Ter
XM_006713214.1:c.694C>T	XP_006713277.1:p.Gln232Ter
XM_011533869.1:c.688C>T	XP_011532171.1:p.Gln230Ter
XM_011533870.1:c.655C>T	XP_011532172.1:p.Gln219Ter
XM_011533871.1:c.526C>T	XP_011532173.1:p.Gln176Ter
NM_001354798.1:c.626-1908C>T	NP_001341727.1:n.626-1908C>T
NM_017875.4:c.706C>T MANE Select	NP_060345.2:p.Gln236Ter
XM_006713214.2:c.694C>T	XP_006713277.1:p.Gln232Ter
XM_011533869.2:c.688C>T	XP_011532171.1:p.Gln230Ter
XM_024453611.1:c.652C>T	XP_024309379.1:p.Gln218Ter
NM_001354798.2:c.626-1908C>T	NP_001341727.1:n.626-1908C>T