Canonical Allele Identifier: CA352205836

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436065A>C (hg19) ; chr3:g.39394574A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394574A>C , CM000665.2:g.39394574A>C	GRCh38
NC_000003.11:g.39436065A>C , CM000665.1:g.39436065A>C	GRCh37
NC_000003.10:g.39411069A>C	NCBI36
NG_016931.1:g.16251A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.742A>C	ENSP00000495376.1:p.Lys248Gln
ENST00000643672.1:c.739A>C	ENSP00000494532.1:p.Lys247Gln
ENST00000645280.1:c.736A>C	ENSP00000496690.1:p.Lys246Gln
ENST00000648579.1:c.*87A>C	ENSP00000497638.1:n.*87A>C
ENST00000650617.1:c.790A>C MANE Select	ENSP00000497532.1:p.Lys264Gln
ENST00000273158.8:c.790A>C	ENSP00000273158.3:p.Lys264Gln
NM_017875.2:c.790A>C	NP_060345.2:p.Lys264Gln
XM_006713214.1:c.778A>C	XP_006713277.1:p.Lys260Gln
XM_011533869.1:c.772A>C	XP_011532171.1:p.Lys258Gln
XM_011533870.1:c.739A>C	XP_011532172.1:p.Lys247Gln
XM_011533871.1:c.610A>C	XP_011532173.1:p.Lys204Gln
NM_001354798.1:c.626-1824A>C	NP_001341727.1:n.626-1824A>C
NM_017875.4:c.790A>C MANE Select	NP_060345.2:p.Lys264Gln
XM_006713214.2:c.778A>C	XP_006713277.1:p.Lys260Gln
XM_011533869.2:c.772A>C	XP_011532171.1:p.Lys258Gln
XM_024453611.1:c.736A>C	XP_024309379.1:p.Lys246Gln
NM_001354798.2:c.626-1824A>C	NP_001341727.1:n.626-1824A>C