Canonical Allele Identifier: CA2595982180
Gene: SLC25A38 HGNC NCBI

Linked Data

dbSNP Id: rs2125582637
gnomAD v3: 3-39394244-T-G
gnomAD v4: 3-39394244-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394244T>G , CM000665.2:g.39394244T>G GRCh38
NC_000003.11:g.39435735T>G , CM000665.1:g.39435735T>G GRCh37
NC_000003.10:g.39410739T>G NCBI36
NG_016931.1:g.15921T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.578-166T>G ENSP00000495376.1:n.578-166T>G
ENST00000643672.1:c.575-166T>G ENSP00000494532.1:n.575-166T>G
ENST00000645280.1:c.572-166T>G ENSP00000496690.1:n.572-166T>G
ENST00000645630.1:c.446-166T>G ENSP00000493714.1:n.446-166T>G
ENST00000648579.1:c.722-206T>G ENSP00000497638.1:n.722-206T>G
ENST00000650617.1:c.626-166T>G MANE Select ENSP00000497532.1:n.626-166T>G
ENST00000273158.8:c.626-166T>G ENSP00000273158.3:n.626-166T>G
NM_017875.2:c.626-166T>G NP_060345.2:n.626-166T>G
XM_006713214.1:c.614-166T>G XP_006713277.1:n.614-166T>G
XM_011533869.1:c.608-166T>G XP_011532171.1:n.608-166T>G
XM_011533870.1:c.575-166T>G XP_011532172.1:n.575-166T>G
XM_011533871.1:c.446-166T>G XP_011532173.1:n.446-166T>G
NM_001354798.1:c.626-2154T>G NP_001341727.1:n.626-2154T>G
NM_017875.4:c.626-166T>G MANE Select NP_060345.2:n.626-166T>G
XM_006713214.2:c.614-166T>G XP_006713277.1:n.614-166T>G
XM_011533869.2:c.608-166T>G XP_011532171.1:n.608-166T>G
XM_024453611.1:c.572-166T>G XP_024309379.1:n.572-166T>G
NM_001354798.2:c.626-2154T>G NP_001341727.1:n.626-2154T>G