Canonical Allele Identifier: CA352205065

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435969T>C (hg19) ; chr3:g.39394478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394478T>C , CM000665.2:g.39394478T>C	GRCh38
NC_000003.11:g.39435969T>C , CM000665.1:g.39435969T>C	GRCh37
NC_000003.10:g.39410973T>C	NCBI36
NG_016931.1:g.16155T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.646T>C	ENSP00000495376.1:p.Ser216Pro
ENST00000643672.1:c.643T>C	ENSP00000494532.1:p.Ser215Pro
ENST00000645280.1:c.640T>C	ENSP00000496690.1:p.Ser214Pro
ENST00000648579.1:c.750T>C	ENSP00000497638.1:p.Pro250=
ENST00000650617.1:c.694T>C MANE Select	ENSP00000497532.1:p.Ser232Pro
ENST00000273158.8:c.694T>C	ENSP00000273158.3:p.Ser232Pro
NM_017875.2:c.694T>C	NP_060345.2:p.Ser232Pro
XM_006713214.1:c.682T>C	XP_006713277.1:p.Ser228Pro
XM_011533869.1:c.676T>C	XP_011532171.1:p.Ser226Pro
XM_011533870.1:c.643T>C	XP_011532172.1:p.Ser215Pro
XM_011533871.1:c.514T>C	XP_011532173.1:p.Ser172Pro
NM_001354798.1:c.626-1920T>C	NP_001341727.1:n.626-1920T>C
NM_017875.4:c.694T>C MANE Select	NP_060345.2:p.Ser232Pro
XM_006713214.2:c.682T>C	XP_006713277.1:p.Ser228Pro
XM_011533869.2:c.676T>C	XP_011532171.1:p.Ser226Pro
XM_024453611.1:c.640T>C	XP_024309379.1:p.Ser214Pro
NM_001354798.2:c.626-1920T>C	NP_001341727.1:n.626-1920T>C