Canonical Allele Identifier: CA352205823

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436063T>G (hg19) ; chr3:g.39394572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394572T>G , CM000665.2:g.39394572T>G	GRCh38
NC_000003.11:g.39436063T>G , CM000665.1:g.39436063T>G	GRCh37
NC_000003.10:g.39411067T>G	NCBI36
NG_016931.1:g.16249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.740T>G	ENSP00000495376.1:p.Phe247Cys
ENST00000643672.1:c.737T>G	ENSP00000494532.1:p.Phe246Cys
ENST00000645280.1:c.734T>G	ENSP00000496690.1:p.Phe245Cys
ENST00000648579.1:c.*85T>G	ENSP00000497638.1:n.*85T>G
ENST00000650617.1:c.788T>G MANE Select	ENSP00000497532.1:p.Phe263Cys
ENST00000273158.8:c.788T>G	ENSP00000273158.3:p.Phe263Cys
NM_017875.2:c.788T>G	NP_060345.2:p.Phe263Cys
XM_006713214.1:c.776T>G	XP_006713277.1:p.Phe259Cys
XM_011533869.1:c.770T>G	XP_011532171.1:p.Phe257Cys
XM_011533870.1:c.737T>G	XP_011532172.1:p.Phe246Cys
XM_011533871.1:c.608T>G	XP_011532173.1:p.Phe203Cys
NM_001354798.1:c.626-1826T>G	NP_001341727.1:n.626-1826T>G
NM_017875.4:c.788T>G MANE Select	NP_060345.2:p.Phe263Cys
XM_006713214.2:c.776T>G	XP_006713277.1:p.Phe259Cys
XM_011533869.2:c.770T>G	XP_011532171.1:p.Phe257Cys
XM_024453611.1:c.734T>G	XP_024309379.1:p.Phe245Cys
NM_001354798.2:c.626-1826T>G	NP_001341727.1:n.626-1826T>G