Canonical Allele Identifier: CA352200164

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 1172475
• ClinVar RCV Id: RCV001526349
• dbSNP Id: rs1198314410
• gnomAD v3: 3-39391439-A-C
• gnomAD v4: 3-39391439-A-C
• MyVariant Identifiers: chr3:g.39432930A>C (hg19) ; chr3:g.39391439A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39391439A>C , CM000665.2:g.39391439A>C	GRCh38
NC_000003.11:g.39432930A>C , CM000665.1:g.39432930A>C	GRCh37
NC_000003.10:g.39407934A>C	NCBI36
NG_016931.1:g.13116A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.229-2A>C	ENSP00000495376.1:n.229-2A>C
ENST00000642978.1:c.259-2A>C	ENSP00000494342.1:n.259-2A>C
ENST00000643672.1:c.226-2A>C	ENSP00000494532.1:n.226-2A>C
ENST00000645280.1:c.223-2A>C	ENSP00000496690.1:n.223-2A>C
ENST00000645630.1:c.277-414A>C	ENSP00000493714.1:n.277-414A>C
ENST00000648579.1:c.277-2A>C	ENSP00000497638.1:n.277-2A>C
ENST00000650617.1:c.277-2A>C MANE Select	ENSP00000497532.1:n.277-2A>C
ENST00000273158.8:c.277-2A>C	ENSP00000273158.3:n.277-2A>C
ENST00000431510.1:c.265-2A>C	ENSP00000394244.1:n.265-2A>C
NM_017875.2:c.277-2A>C	NP_060345.2:n.277-2A>C
XM_006713214.1:c.265-2A>C	XP_006713277.1:n.265-2A>C
XM_011533869.1:c.259-2A>C	XP_011532171.1:n.259-2A>C
XM_011533870.1:c.226-2A>C	XP_011532172.1:n.226-2A>C
XM_011533871.1:c.277-414A>C	XP_011532173.1:n.277-414A>C
NM_001354798.1:c.277-2A>C	NP_001341727.1:n.277-2A>C
NM_017875.4:c.277-2A>C MANE Select	NP_060345.2:n.277-2A>C
XM_006713214.2:c.265-2A>C	XP_006713277.1:n.265-2A>C
XM_011533869.2:c.259-2A>C	XP_011532171.1:n.259-2A>C
XM_024453611.1:c.223-2A>C	XP_024309379.1:n.223-2A>C
NM_001354798.2:c.277-2A>C	NP_001341727.1:n.277-2A>C