Canonical Allele Identifier: CA352205284

Gene: SLC25A38

Linked Data

• dbSNP Id: rs371503933
• gnomAD v3: 3-39394506-T-A
• gnomAD v4: 3-39394506-T-A
• MyVariant Identifiers: chr3:g.39435997T>A (hg19) ; chr3:g.39394506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394506T>A , CM000665.2:g.39394506T>A	GRCh38
NC_000003.11:g.39435997T>A , CM000665.1:g.39435997T>A	GRCh37
NC_000003.10:g.39411001T>A	NCBI36
NG_016931.1:g.16183T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.674T>A	ENSP00000495376.1:p.Ile225Asn
ENST00000643672.1:c.671T>A	ENSP00000494532.1:p.Ile224Asn
ENST00000645280.1:c.668T>A	ENSP00000496690.1:p.Ile223Asn
ENST00000648579.1:c.*19T>A	ENSP00000497638.1:n.*19T>A
ENST00000650617.1:c.722T>A MANE Select	ENSP00000497532.1:p.Ile241Asn
ENST00000273158.8:c.722T>A	ENSP00000273158.3:p.Ile241Asn
NM_017875.2:c.722T>A	NP_060345.2:p.Ile241Asn
XM_006713214.1:c.710T>A	XP_006713277.1:p.Ile237Asn
XM_011533869.1:c.704T>A	XP_011532171.1:p.Ile235Asn
XM_011533870.1:c.671T>A	XP_011532172.1:p.Ile224Asn
XM_011533871.1:c.542T>A	XP_011532173.1:p.Ile181Asn
NM_001354798.1:c.626-1892T>A	NP_001341727.1:n.626-1892T>A
NM_017875.4:c.722T>A MANE Select	NP_060345.2:p.Ile241Asn
XM_006713214.2:c.710T>A	XP_006713277.1:p.Ile237Asn
XM_011533869.2:c.704T>A	XP_011532171.1:p.Ile235Asn
XM_024453611.1:c.668T>A	XP_024309379.1:p.Ile223Asn
NM_001354798.2:c.626-1892T>A	NP_001341727.1:n.626-1892T>A