Canonical Allele Identifier: CA352204751

Gene: SLC25A38

Linked Data

• dbSNP Id: rs2041806530
• gnomAD v3: 3-39394442-A-C
• gnomAD v4: 3-39394442-A-C
• MyVariant Identifiers: chr3:g.39435933A>C (hg19) ; chr3:g.39394442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394442A>C , CM000665.2:g.39394442A>C	GRCh38
NC_000003.11:g.39435933A>C , CM000665.1:g.39435933A>C	GRCh37
NC_000003.10:g.39410937A>C	NCBI36
NG_016931.1:g.16119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.610A>C	ENSP00000495376.1:p.Asn204His
ENST00000643672.1:c.607A>C	ENSP00000494532.1:p.Asn203His
ENST00000645280.1:c.604A>C	ENSP00000496690.1:p.Asn202His
ENST00000648579.1:c.722-8A>C	ENSP00000497638.1:n.722-8A>C
ENST00000650617.1:c.658A>C MANE Select	ENSP00000497532.1:p.Asn220His
ENST00000273158.8:c.658A>C	ENSP00000273158.3:p.Asn220His
NM_017875.2:c.658A>C	NP_060345.2:p.Asn220His
XM_006713214.1:c.646A>C	XP_006713277.1:p.Asn216His
XM_011533869.1:c.640A>C	XP_011532171.1:p.Asn214His
XM_011533870.1:c.607A>C	XP_011532172.1:p.Asn203His
XM_011533871.1:c.478A>C	XP_011532173.1:p.Asn160His
NM_001354798.1:c.626-1956A>C	NP_001341727.1:n.626-1956A>C
NM_017875.4:c.658A>C MANE Select	NP_060345.2:p.Asn220His
XM_006713214.2:c.646A>C	XP_006713277.1:p.Asn216His
XM_011533869.2:c.640A>C	XP_011532171.1:p.Asn214His
XM_024453611.1:c.604A>C	XP_024309379.1:p.Asn202His
NM_001354798.2:c.626-1956A>C	NP_001341727.1:n.626-1956A>C