Canonical Allele Identifier: CA352205264

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435993G>T (hg19) ; chr3:g.39394502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394502G>T , CM000665.2:g.39394502G>T	GRCh38
NC_000003.11:g.39435993G>T , CM000665.1:g.39435993G>T	GRCh37
NC_000003.10:g.39410997G>T	NCBI36
NG_016931.1:g.16179G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.670G>T	ENSP00000495376.1:p.Val224Phe
ENST00000643672.1:c.667G>T	ENSP00000494532.1:p.Val223Phe
ENST00000645280.1:c.664G>T	ENSP00000496690.1:p.Val222Phe
ENST00000648579.1:c.*15G>T	ENSP00000497638.1:n.*15G>T
ENST00000650617.1:c.718G>T MANE Select	ENSP00000497532.1:p.Val240Phe
ENST00000273158.8:c.718G>T	ENSP00000273158.3:p.Val240Phe
NM_017875.2:c.718G>T	NP_060345.2:p.Val240Phe
XM_006713214.1:c.706G>T	XP_006713277.1:p.Val236Phe
XM_011533869.1:c.700G>T	XP_011532171.1:p.Val234Phe
XM_011533870.1:c.667G>T	XP_011532172.1:p.Val223Phe
XM_011533871.1:c.538G>T	XP_011532173.1:p.Val180Phe
NM_001354798.1:c.626-1896G>T	NP_001341727.1:n.626-1896G>T
NM_017875.4:c.718G>T MANE Select	NP_060345.2:p.Val240Phe
XM_006713214.2:c.706G>T	XP_006713277.1:p.Val236Phe
XM_011533869.2:c.700G>T	XP_011532171.1:p.Val234Phe
XM_024453611.1:c.664G>T	XP_024309379.1:p.Val222Phe
NM_001354798.2:c.626-1896G>T	NP_001341727.1:n.626-1896G>T