Canonical Allele Identifier: CA2327537

Gene: SLC25A38

Linked Data

• dbSNP Id: rs371503933
• ExAC: 3:39435997 T / C
• gnomAD v2: 3-39435997-T-C
• gnomAD v3: 3-39394506-T-C
• gnomAD v4: 3-39394506-T-C
• MyVariant Identifiers: chr3:g.39435997T>C (hg19) ; chr3:g.39394506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394506T>C , CM000665.2:g.39394506T>C	GRCh38
NC_000003.11:g.39435997T>C , CM000665.1:g.39435997T>C	GRCh37
NC_000003.10:g.39411001T>C	NCBI36
NG_016931.1:g.16183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.674T>C	ENSP00000495376.1:p.Ile225Thr
ENST00000643672.1:c.671T>C	ENSP00000494532.1:p.Ile224Thr
ENST00000645280.1:c.668T>C	ENSP00000496690.1:p.Ile223Thr
ENST00000648579.1:c.*19T>C	ENSP00000497638.1:n.*19T>C
ENST00000650617.1:c.722T>C MANE Select	ENSP00000497532.1:p.Ile241Thr
ENST00000273158.8:c.722T>C	ENSP00000273158.3:p.Ile241Thr
NM_017875.2:c.722T>C	NP_060345.2:p.Ile241Thr
XM_006713214.1:c.710T>C	XP_006713277.1:p.Ile237Thr
XM_011533869.1:c.704T>C	XP_011532171.1:p.Ile235Thr
XM_011533870.1:c.671T>C	XP_011532172.1:p.Ile224Thr
XM_011533871.1:c.542T>C	XP_011532173.1:p.Ile181Thr
NM_001354798.1:c.626-1892T>C	NP_001341727.1:n.626-1892T>C
NM_017875.4:c.722T>C MANE Select	NP_060345.2:p.Ile241Thr
XM_006713214.2:c.710T>C	XP_006713277.1:p.Ile237Thr
XM_011533869.2:c.704T>C	XP_011532171.1:p.Ile235Thr
XM_024453611.1:c.668T>C	XP_024309379.1:p.Ile223Thr
NM_001354798.2:c.626-1892T>C	NP_001341727.1:n.626-1892T>C