Canonical Allele Identifier: CA73040682

Gene: SLC25A38

Linked Data

• dbSNP Id: rs564991095
• gnomAD v2: 3-39435786-C-T
• gnomAD v3: 3-39394295-C-T
• gnomAD v4: 3-39394295-C-T
• MyVariant Identifiers: chr3:g.39435786C>T (hg19) ; chr3:g.39394295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394295C>T , CM000665.2:g.39394295C>T	GRCh38
NC_000003.11:g.39435786C>T , CM000665.1:g.39435786C>T	GRCh37
NC_000003.10:g.39410790C>T	NCBI36
NG_016931.1:g.15972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.578-115C>T	ENSP00000495376.1:n.578-115C>T
ENST00000643672.1:c.575-115C>T	ENSP00000494532.1:n.575-115C>T
ENST00000645280.1:c.572-115C>T	ENSP00000496690.1:n.572-115C>T
ENST00000645630.1:c.446-115C>T	ENSP00000493714.1:n.446-115C>T
ENST00000648579.1:c.722-155C>T	ENSP00000497638.1:n.722-155C>T
ENST00000650617.1:c.626-115C>T MANE Select	ENSP00000497532.1:n.626-115C>T
ENST00000273158.8:c.626-115C>T	ENSP00000273158.3:n.626-115C>T
NM_017875.2:c.626-115C>T	NP_060345.2:n.626-115C>T
XM_006713214.1:c.614-115C>T	XP_006713277.1:n.614-115C>T
XM_011533869.1:c.608-115C>T	XP_011532171.1:n.608-115C>T
XM_011533870.1:c.575-115C>T	XP_011532172.1:n.575-115C>T
XM_011533871.1:c.446-115C>T	XP_011532173.1:n.446-115C>T
NM_001354798.1:c.626-2103C>T	NP_001341727.1:n.626-2103C>T
NM_017875.4:c.626-115C>T MANE Select	NP_060345.2:n.626-115C>T
XM_006713214.2:c.614-115C>T	XP_006713277.1:n.614-115C>T
XM_011533869.2:c.608-115C>T	XP_011532171.1:n.608-115C>T
XM_024453611.1:c.572-115C>T	XP_024309379.1:n.572-115C>T
NM_001354798.2:c.626-2103C>T	NP_001341727.1:n.626-2103C>T