Canonical Allele Identifier: CA352205513

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436028G>C (hg19) ; chr3:g.39394537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394537G>C , CM000665.2:g.39394537G>C	GRCh38
NC_000003.11:g.39436028G>C , CM000665.1:g.39436028G>C	GRCh37
NC_000003.10:g.39411032G>C	NCBI36
NG_016931.1:g.16214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.705G>C	ENSP00000495376.1:p.Lys235Asn
ENST00000643672.1:c.702G>C	ENSP00000494532.1:p.Lys234Asn
ENST00000645280.1:c.699G>C	ENSP00000496690.1:p.Lys233Asn
ENST00000648579.1:c.*50G>C	ENSP00000497638.1:n.*50G>C
ENST00000650617.1:c.753G>C MANE Select	ENSP00000497532.1:p.Lys251Asn
ENST00000273158.8:c.753G>C	ENSP00000273158.3:p.Lys251Asn
NM_017875.2:c.753G>C	NP_060345.2:p.Lys251Asn
XM_006713214.1:c.741G>C	XP_006713277.1:p.Lys247Asn
XM_011533869.1:c.735G>C	XP_011532171.1:p.Lys245Asn
XM_011533870.1:c.702G>C	XP_011532172.1:p.Lys234Asn
XM_011533871.1:c.573G>C	XP_011532173.1:p.Lys191Asn
NM_001354798.1:c.626-1861G>C	NP_001341727.1:n.626-1861G>C
NM_017875.4:c.753G>C MANE Select	NP_060345.2:p.Lys251Asn
XM_006713214.2:c.741G>C	XP_006713277.1:p.Lys247Asn
XM_011533869.2:c.735G>C	XP_011532171.1:p.Lys245Asn
XM_024453611.1:c.699G>C	XP_024309379.1:p.Lys233Asn
NM_001354798.2:c.626-1861G>C	NP_001341727.1:n.626-1861G>C