Canonical Allele Identifier: CA433164682

Gene: SLC25A38

Linked Data

• dbSNP Id: rs778318538
• gnomAD v2: 3-39435989-G-T
• gnomAD v4: 3-39394498-G-T
• MyVariant Identifiers: chr3:g.39435989G>T (hg19) ; chr3:g.39394498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394498G>T , CM000665.2:g.39394498G>T	GRCh38
NC_000003.11:g.39435989G>T , CM000665.1:g.39435989G>T	GRCh37
NC_000003.10:g.39410993G>T	NCBI36
NG_016931.1:g.16175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.666G>T	ENSP00000495376.1:p.Ala222=
ENST00000643672.1:c.663G>T	ENSP00000494532.1:p.Ala221=
ENST00000645280.1:c.660G>T	ENSP00000496690.1:p.Ala220=
ENST00000648579.1:c.*11G>T	ENSP00000497638.1:n.*11G>T
ENST00000650617.1:c.714G>T MANE Select	ENSP00000497532.1:p.Ala238=
ENST00000273158.8:c.714G>T	ENSP00000273158.3:p.Ala238=
NM_017875.2:c.714G>T	NP_060345.2:p.Ala238=
XM_006713214.1:c.702G>T	XP_006713277.1:p.Ala234=
XM_011533869.1:c.696G>T	XP_011532171.1:p.Ala232=
XM_011533870.1:c.663G>T	XP_011532172.1:p.Ala221=
XM_011533871.1:c.534G>T	XP_011532173.1:p.Ala178=
NM_001354798.1:c.626-1900G>T	NP_001341727.1:n.626-1900G>T
NM_017875.4:c.714G>T MANE Select	NP_060345.2:p.Ala238=
XM_006713214.2:c.702G>T	XP_006713277.1:p.Ala234=
XM_011533869.2:c.696G>T	XP_011532171.1:p.Ala232=
XM_024453611.1:c.660G>T	XP_024309379.1:p.Ala220=
NM_001354798.2:c.626-1900G>T	NP_001341727.1:n.626-1900G>T