Canonical Allele Identifier: CA352205800

Gene: SLC25A38

Linked Data

• dbSNP Id: rs2041808079
• gnomAD v4: 3-39394568-A-G
• MyVariant Identifiers: chr3:g.39436059A>G (hg19) ; chr3:g.39394568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394568A>G , CM000665.2:g.39394568A>G	GRCh38
NC_000003.11:g.39436059A>G , CM000665.1:g.39436059A>G	GRCh37
NC_000003.10:g.39411063A>G	NCBI36
NG_016931.1:g.16245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.736A>G	ENSP00000495376.1:p.Ile246Val
ENST00000643672.1:c.733A>G	ENSP00000494532.1:p.Ile245Val
ENST00000645280.1:c.730A>G	ENSP00000496690.1:p.Ile244Val
ENST00000648579.1:c.*81A>G	ENSP00000497638.1:n.*81A>G
ENST00000650617.1:c.784A>G MANE Select	ENSP00000497532.1:p.Ile262Val
ENST00000273158.8:c.784A>G	ENSP00000273158.3:p.Ile262Val
NM_017875.2:c.784A>G	NP_060345.2:p.Ile262Val
XM_006713214.1:c.772A>G	XP_006713277.1:p.Ile258Val
XM_011533869.1:c.766A>G	XP_011532171.1:p.Ile256Val
XM_011533870.1:c.733A>G	XP_011532172.1:p.Ile245Val
XM_011533871.1:c.604A>G	XP_011532173.1:p.Ile202Val
NM_001354798.1:c.626-1830A>G	NP_001341727.1:n.626-1830A>G
NM_017875.4:c.784A>G MANE Select	NP_060345.2:p.Ile262Val
XM_006713214.2:c.772A>G	XP_006713277.1:p.Ile258Val
XM_011533869.2:c.766A>G	XP_011532171.1:p.Ile256Val
XM_024453611.1:c.730A>G	XP_024309379.1:p.Ile244Val
NM_001354798.2:c.626-1830A>G	NP_001341727.1:n.626-1830A>G