Canonical Allele Identifier: CA542617046
Gene: SLC25A38 HGNC NCBI

Linked Data

dbSNP Id: rs1450609806
gnomAD v2: 3-39436102-G-A
gnomAD v3: 3-39394611-G-A
gnomAD v4: 3-39394611-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394611G>A , CM000665.2:g.39394611G>A GRCh38
NC_000003.11:g.39436102G>A , CM000665.1:g.39436102G>A GRCh37
NC_000003.10:g.39411106G>A NCBI36
NG_016931.1:g.16288G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643672.1:c.741+35G>A ENSP00000494532.1:n.741+35G>A
ENST00000645280.1:c.738+35G>A ENSP00000496690.1:n.738+35G>A
ENST00000648579.1:c.*89+35G>A ENSP00000497638.1:n.*89+35G>A
ENST00000650617.1:c.792+35G>A MANE Select ENSP00000497532.1:n.792+35G>A
ENST00000273158.8:c.792+35G>A ENSP00000273158.3:n.792+35G>A
NM_017875.2:c.792+35G>A NP_060345.2:n.792+35G>A
XM_006713214.1:c.780+35G>A XP_006713277.1:n.780+35G>A
XM_011533869.1:c.774+35G>A XP_011532171.1:n.774+35G>A
XM_011533870.1:c.741+35G>A XP_011532172.1:n.741+35G>A
XM_011533871.1:c.612+35G>A XP_011532173.1:n.612+35G>A
NM_001354798.1:c.626-1787G>A NP_001341727.1:n.626-1787G>A
NM_017875.4:c.792+35G>A MANE Select NP_060345.2:n.792+35G>A
XM_006713214.2:c.780+35G>A XP_006713277.1:n.780+35G>A
XM_011533869.2:c.774+35G>A XP_011532171.1:n.774+35G>A
XM_024453611.1:c.738+35G>A XP_024309379.1:n.738+35G>A
NM_001354798.2:c.626-1787G>A NP_001341727.1:n.626-1787G>A