Canonical Allele Identifier: CA542617043

Gene: SLC25A38

Linked Data

• dbSNP Id: rs1467784842
• gnomAD v2: 3-39436094-C-G
• gnomAD v4: 3-39394603-C-G
• MyVariant Identifiers: chr3:g.39436094C>G (hg19) ; chr3:g.39394603C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394603C>G , CM000665.2:g.39394603C>G	GRCh38
NC_000003.11:g.39436094C>G , CM000665.1:g.39436094C>G	GRCh37
NC_000003.10:g.39411098C>G	NCBI36
NG_016931.1:g.16280C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643672.1:c.741+27C>G	ENSP00000494532.1:n.741+27C>G
ENST00000645280.1:c.738+27C>G	ENSP00000496690.1:n.738+27C>G
ENST00000648579.1:c.*89+27C>G	ENSP00000497638.1:n.*89+27C>G
ENST00000650617.1:c.792+27C>G MANE Select	ENSP00000497532.1:n.792+27C>G
ENST00000273158.8:c.792+27C>G	ENSP00000273158.3:n.792+27C>G
NM_017875.2:c.792+27C>G	NP_060345.2:n.792+27C>G
XM_006713214.1:c.780+27C>G	XP_006713277.1:n.780+27C>G
XM_011533869.1:c.774+27C>G	XP_011532171.1:n.774+27C>G
XM_011533870.1:c.741+27C>G	XP_011532172.1:n.741+27C>G
XM_011533871.1:c.612+27C>G	XP_011532173.1:n.612+27C>G
NM_001354798.1:c.626-1795C>G	NP_001341727.1:n.626-1795C>G
NM_017875.4:c.792+27C>G MANE Select	NP_060345.2:n.792+27C>G
XM_006713214.2:c.780+27C>G	XP_006713277.1:n.780+27C>G
XM_011533869.2:c.774+27C>G	XP_011532171.1:n.774+27C>G
XM_024453611.1:c.738+27C>G	XP_024309379.1:n.738+27C>G
NM_001354798.2:c.626-1795C>G	NP_001341727.1:n.626-1795C>G