Canonical Allele Identifier: CA352205717

Gene: SLC25A38

Linked Data

• dbSNP Id: rs1479458160
• gnomAD v2: 3-39436051-T-A
• gnomAD v4: 3-39394560-T-A
• MyVariant Identifiers: chr3:g.39436051T>A (hg19) ; chr3:g.39394560T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394560T>A , CM000665.2:g.39394560T>A	GRCh38
NC_000003.11:g.39436051T>A , CM000665.1:g.39436051T>A	GRCh37
NC_000003.10:g.39411055T>A	NCBI36
NG_016931.1:g.16237T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.728T>A	ENSP00000495376.1:p.Val243Glu
ENST00000643672.1:c.725T>A	ENSP00000494532.1:p.Val242Glu
ENST00000645280.1:c.722T>A	ENSP00000496690.1:p.Val241Glu
ENST00000648579.1:c.*73T>A	ENSP00000497638.1:n.*73T>A
ENST00000650617.1:c.776T>A MANE Select	ENSP00000497532.1:p.Val259Glu
ENST00000273158.8:c.776T>A	ENSP00000273158.3:p.Val259Glu
NM_017875.2:c.776T>A	NP_060345.2:p.Val259Glu
XM_006713214.1:c.764T>A	XP_006713277.1:p.Val255Glu
XM_011533869.1:c.758T>A	XP_011532171.1:p.Val253Glu
XM_011533870.1:c.725T>A	XP_011532172.1:p.Val242Glu
XM_011533871.1:c.596T>A	XP_011532173.1:p.Val199Glu
NM_001354798.1:c.626-1838T>A	NP_001341727.1:n.626-1838T>A
NM_017875.4:c.776T>A MANE Select	NP_060345.2:p.Val259Glu
XM_006713214.2:c.764T>A	XP_006713277.1:p.Val255Glu
XM_011533869.2:c.758T>A	XP_011532171.1:p.Val253Glu
XM_024453611.1:c.722T>A	XP_024309379.1:p.Val241Glu
NM_001354798.2:c.626-1838T>A	NP_001341727.1:n.626-1838T>A