Canonical Allele Identifier: CA2327523

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 901142
• ClinVar RCV Id: RCV003727912
• dbSNP Id: rs767154505
• ExAC: 3:39435896 T / C
• gnomAD v2: 3-39435896-T-C
• gnomAD v4: 3-39394405-T-C
• MyVariant Identifiers: chr3:g.39435896T>C (hg19) ; chr3:g.39394405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394405T>C , CM000665.2:g.39394405T>C	GRCh38
NC_000003.11:g.39435896T>C , CM000665.1:g.39435896T>C	GRCh37
NC_000003.10:g.39410900T>C	NCBI36
NG_016931.1:g.16082T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.578-5T>C	ENSP00000495376.1:n.578-5T>C
ENST00000643672.1:c.575-5T>C	ENSP00000494532.1:n.575-5T>C
ENST00000645280.1:c.572-5T>C	ENSP00000496690.1:n.572-5T>C
ENST00000645630.1:c.446-5T>C	ENSP00000493714.1:n.446-5T>C
ENST00000648579.1:c.722-45T>C	ENSP00000497638.1:n.722-45T>C
ENST00000650617.1:c.626-5T>C MANE Select	ENSP00000497532.1:n.626-5T>C
ENST00000273158.8:c.626-5T>C	ENSP00000273158.3:n.626-5T>C
NM_017875.2:c.626-5T>C	NP_060345.2:n.626-5T>C
XM_006713214.1:c.614-5T>C	XP_006713277.1:n.614-5T>C
XM_011533869.1:c.608-5T>C	XP_011532171.1:n.608-5T>C
XM_011533870.1:c.575-5T>C	XP_011532172.1:n.575-5T>C
XM_011533871.1:c.446-5T>C	XP_011532173.1:n.446-5T>C
NM_001354798.1:c.626-1993T>C	NP_001341727.1:n.626-1993T>C
NM_017875.4:c.626-5T>C MANE Select	NP_060345.2:n.626-5T>C
XM_006713214.2:c.614-5T>C	XP_006713277.1:n.614-5T>C
XM_011533869.2:c.608-5T>C	XP_011532171.1:n.608-5T>C
XM_024453611.1:c.572-5T>C	XP_024309379.1:n.572-5T>C
NM_001354798.2:c.626-1993T>C	NP_001341727.1:n.626-1993T>C