Canonical Allele Identifier: CA352205163

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435983A>T (hg19) ; chr3:g.39394492A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394492A>T , CM000665.2:g.39394492A>T	GRCh38
NC_000003.11:g.39435983A>T , CM000665.1:g.39435983A>T	GRCh37
NC_000003.10:g.39410987A>T	NCBI36
NG_016931.1:g.16169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.660A>T	ENSP00000495376.1:p.Gln220His
ENST00000643672.1:c.657A>T	ENSP00000494532.1:p.Gln219His
ENST00000645280.1:c.654A>T	ENSP00000496690.1:p.Gln218His
ENST00000648579.1:c.*5A>T	ENSP00000497638.1:n.*5A>T
ENST00000650617.1:c.708A>T MANE Select	ENSP00000497532.1:p.Gln236His
ENST00000273158.8:c.708A>T	ENSP00000273158.3:p.Gln236His
NM_017875.2:c.708A>T	NP_060345.2:p.Gln236His
XM_006713214.1:c.696A>T	XP_006713277.1:p.Gln232His
XM_011533869.1:c.690A>T	XP_011532171.1:p.Gln230His
XM_011533870.1:c.657A>T	XP_011532172.1:p.Gln219His
XM_011533871.1:c.528A>T	XP_011532173.1:p.Gln176His
NM_001354798.1:c.626-1906A>T	NP_001341727.1:n.626-1906A>T
NM_017875.4:c.708A>T MANE Select	NP_060345.2:p.Gln236His
XM_006713214.2:c.696A>T	XP_006713277.1:p.Gln232His
XM_011533869.2:c.690A>T	XP_011532171.1:p.Gln230His
XM_024453611.1:c.654A>T	XP_024309379.1:p.Gln218His
NM_001354798.2:c.626-1906A>T	NP_001341727.1:n.626-1906A>T