Canonical Allele Identifier: CA73041152

Gene: SLC25A38

Linked Data

• dbSNP Id: rs982237897
• gnomAD v2: 3-39438504-A-G
• gnomAD v3: 3-39397013-A-G
• gnomAD v4: 3-39397013-A-G
• MyVariant Identifiers: chr3:g.39438504A>G (hg19) ; chr3:g.39397013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39397013A>G , CM000665.2:g.39397013A>G	GRCh38
NC_000003.11:g.39438504A>G , CM000665.1:g.39438504A>G	GRCh37
NC_000003.10:g.39413508A>G	NCBI36
NG_016931.1:g.18690A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648579.1:c.*705A>G	ENSP00000497638.1:n.*705A>G
ENST00000650617.1:c.*493A>G MANE Select	ENSP00000497532.1:n.*493A>G
ENST00000273158.8:c.*493A>G	ENSP00000273158.3:n.*493A>G
NM_017875.2:c.*493A>G	NP_060345.2:n.*493A>G
XM_006713214.1:c.*493A>G	XP_006713277.1:n.*493A>G
XM_011533869.1:c.*493A>G	XP_011532171.1:n.*493A>G
XM_011533870.1:c.*493A>G	XP_011532172.1:n.*493A>G
XM_011533871.1:c.*493A>G	XP_011532173.1:n.*493A>G
NM_001354798.1:c.*527A>G	NP_001341727.1:n.*527A>G
NM_017875.4:c.*493A>G MANE Select	NP_060345.2:n.*493A>G
XM_006713214.2:c.*493A>G	XP_006713277.1:n.*493A>G
XM_011533869.2:c.*493A>G	XP_011532171.1:n.*493A>G
XM_024453611.1:c.*493A>G	XP_024309379.1:n.*493A>G
NM_001354798.2:c.*527A>G	NP_001341727.1:n.*527A>G