Canonical Allele Identifier: CA352204406

Gene: SLC25A38

Linked Data

• dbSNP Id: rs1372117091
• gnomAD v2: 3-39435905-G-C
• gnomAD v4: 3-39394414-G-C
• MyVariant Identifiers: chr3:g.39435905G>C (hg19) ; chr3:g.39394414G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394414G>C , CM000665.2:g.39394414G>C	GRCh38
NC_000003.11:g.39435905G>C , CM000665.1:g.39435905G>C	GRCh37
NC_000003.10:g.39410909G>C	NCBI36
NG_016931.1:g.16091G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.582G>C	ENSP00000495376.1:p.Gln194His
ENST00000643672.1:c.579G>C	ENSP00000494532.1:p.Gln193His
ENST00000645280.1:c.576G>C	ENSP00000496690.1:p.Gln192His
ENST00000645630.1:c.450G>C	ENSP00000493714.1:p.Gln150His
ENST00000648579.1:c.722-36G>C	ENSP00000497638.1:n.722-36G>C
ENST00000650617.1:c.630G>C MANE Select	ENSP00000497532.1:p.Gln210His
ENST00000273158.8:c.630G>C	ENSP00000273158.3:p.Gln210His
NM_017875.2:c.630G>C	NP_060345.2:p.Gln210His
XM_006713214.1:c.618G>C	XP_006713277.1:p.Gln206His
XM_011533869.1:c.612G>C	XP_011532171.1:p.Gln204His
XM_011533870.1:c.579G>C	XP_011532172.1:p.Gln193His
XM_011533871.1:c.450G>C	XP_011532173.1:p.Gln150His
NM_001354798.1:c.626-1984G>C	NP_001341727.1:n.626-1984G>C
NM_017875.4:c.630G>C MANE Select	NP_060345.2:p.Gln210His
XM_006713214.2:c.618G>C	XP_006713277.1:p.Gln206His
XM_011533869.2:c.612G>C	XP_011532171.1:p.Gln204His
XM_024453611.1:c.576G>C	XP_024309379.1:p.Gln192His
NM_001354798.2:c.626-1984G>C	NP_001341727.1:n.626-1984G>C