Canonical Allele Identifier: CA352205389

Gene: SLC25A38

Linked Data

• dbSNP Id: rs2041807542
• gnomAD v3: 3-39394519-G-T
• gnomAD v4: 3-39394519-G-T
• MyVariant Identifiers: chr3:g.39436010G>T (hg19) ; chr3:g.39394519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394519G>T , CM000665.2:g.39394519G>T	GRCh38
NC_000003.11:g.39436010G>T , CM000665.1:g.39436010G>T	GRCh37
NC_000003.10:g.39411014G>T	NCBI36
NG_016931.1:g.16196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.687G>T	ENSP00000495376.1:p.Met229Ile
ENST00000643672.1:c.684G>T	ENSP00000494532.1:p.Met228Ile
ENST00000645280.1:c.681G>T	ENSP00000496690.1:p.Met227Ile
ENST00000648579.1:c.*32G>T	ENSP00000497638.1:n.*32G>T
ENST00000650617.1:c.735G>T MANE Select	ENSP00000497532.1:p.Met245Ile
ENST00000273158.8:c.735G>T	ENSP00000273158.3:p.Met245Ile
NM_017875.2:c.735G>T	NP_060345.2:p.Met245Ile
XM_006713214.1:c.723G>T	XP_006713277.1:p.Met241Ile
XM_011533869.1:c.717G>T	XP_011532171.1:p.Met239Ile
XM_011533870.1:c.684G>T	XP_011532172.1:p.Met228Ile
XM_011533871.1:c.555G>T	XP_011532173.1:p.Met185Ile
NM_001354798.1:c.626-1879G>T	NP_001341727.1:n.626-1879G>T
NM_017875.4:c.735G>T MANE Select	NP_060345.2:p.Met245Ile
XM_006713214.2:c.723G>T	XP_006713277.1:p.Met241Ile
XM_011533869.2:c.717G>T	XP_011532171.1:p.Met239Ile
XM_024453611.1:c.681G>T	XP_024309379.1:p.Met227Ile
NM_001354798.2:c.626-1879G>T	NP_001341727.1:n.626-1879G>T