Canonical Allele Identifier: CA352204970

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394464-C-T
• MyVariant Identifiers: chr3:g.39435955C>T (hg19) ; chr3:g.39394464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394464C>T , CM000665.2:g.39394464C>T	GRCh38
NC_000003.11:g.39435955C>T , CM000665.1:g.39435955C>T	GRCh37
NC_000003.10:g.39410959C>T	NCBI36
NG_016931.1:g.16141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.632C>T	ENSP00000495376.1:p.Ala211Val
ENST00000643672.1:c.629C>T	ENSP00000494532.1:p.Ala210Val
ENST00000645280.1:c.626C>T	ENSP00000496690.1:p.Ala209Val
ENST00000648579.1:c.736C>T	ENSP00000497638.1:p.Leu246=
ENST00000650617.1:c.680C>T MANE Select	ENSP00000497532.1:p.Ala227Val
ENST00000273158.8:c.680C>T	ENSP00000273158.3:p.Ala227Val
NM_017875.2:c.680C>T	NP_060345.2:p.Ala227Val
XM_006713214.1:c.668C>T	XP_006713277.1:p.Ala223Val
XM_011533869.1:c.662C>T	XP_011532171.1:p.Ala221Val
XM_011533870.1:c.629C>T	XP_011532172.1:p.Ala210Val
XM_011533871.1:c.500C>T	XP_011532173.1:p.Ala167Val
NM_001354798.1:c.626-1934C>T	NP_001341727.1:n.626-1934C>T
NM_017875.4:c.680C>T MANE Select	NP_060345.2:p.Ala227Val
XM_006713214.2:c.668C>T	XP_006713277.1:p.Ala223Val
XM_011533869.2:c.662C>T	XP_011532171.1:p.Ala221Val
XM_024453611.1:c.626C>T	XP_024309379.1:p.Ala209Val
NM_001354798.2:c.626-1934C>T	NP_001341727.1:n.626-1934C>T