Canonical Allele Identifier: CA906961277

Gene: SLC25A38

Linked Data

• dbSNP Id: rs1243468255
• gnomAD v4: 3-39394636-T-C
• MyVariant Identifiers: chr3:g.39436127T>C (hg19) ; chr3:g.39394636T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394636T>C , CM000665.2:g.39394636T>C	GRCh38
NC_000003.11:g.39436127T>C , CM000665.1:g.39436127T>C	GRCh37
NC_000003.10:g.39411131T>C	NCBI36
NG_016931.1:g.16313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643672.1:c.741+60T>C	ENSP00000494532.1:n.741+60T>C
ENST00000645280.1:c.738+60T>C	ENSP00000496690.1:n.738+60T>C
ENST00000648579.1:c.*89+60T>C	ENSP00000497638.1:n.*89+60T>C
ENST00000650617.1:c.792+60T>C MANE Select	ENSP00000497532.1:n.792+60T>C
ENST00000273158.8:c.792+60T>C	ENSP00000273158.3:n.792+60T>C
NM_017875.2:c.792+60T>C	NP_060345.2:n.792+60T>C
XM_006713214.1:c.780+60T>C	XP_006713277.1:n.780+60T>C
XM_011533869.1:c.774+60T>C	XP_011532171.1:n.774+60T>C
XM_011533870.1:c.741+60T>C	XP_011532172.1:n.741+60T>C
XM_011533871.1:c.612+60T>C	XP_011532173.1:n.612+60T>C
NM_001354798.1:c.626-1762T>C	NP_001341727.1:n.626-1762T>C
NM_017875.4:c.792+60T>C MANE Select	NP_060345.2:n.792+60T>C
XM_006713214.2:c.780+60T>C	XP_006713277.1:n.780+60T>C
XM_011533869.2:c.774+60T>C	XP_011532171.1:n.774+60T>C
XM_024453611.1:c.738+60T>C	XP_024309379.1:n.738+60T>C
NM_001354798.2:c.626-1762T>C	NP_001341727.1:n.626-1762T>C