Canonical Allele Identifier: CA906962561

Gene: SLC25A38

Linked Data

• dbSNP Id: rs1240512809
• gnomAD v4: 3-39397025-C-T
• MyVariant Identifiers: chr3:g.39438516C>T (hg19) ; chr3:g.39397025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39397025C>T , CM000665.2:g.39397025C>T	GRCh38
NC_000003.11:g.39438516C>T , CM000665.1:g.39438516C>T	GRCh37
NC_000003.10:g.39413520C>T	NCBI36
NG_016931.1:g.18702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648579.1:c.*717C>T	ENSP00000497638.1:n.*717C>T
ENST00000650617.1:c.*505C>T MANE Select	ENSP00000497532.1:n.*505C>T
ENST00000273158.8:c.*505C>T	ENSP00000273158.3:n.*505C>T
NM_017875.2:c.*505C>T	NP_060345.2:n.*505C>T
XM_006713214.1:c.*505C>T	XP_006713277.1:n.*505C>T
XM_011533869.1:c.*505C>T	XP_011532171.1:n.*505C>T
XM_011533870.1:c.*505C>T	XP_011532172.1:n.*505C>T
XM_011533871.1:c.*505C>T	XP_011532173.1:n.*505C>T
NM_001354798.1:c.*539C>T	NP_001341727.1:n.*539C>T
NM_017875.4:c.*505C>T MANE Select	NP_060345.2:n.*505C>T
XM_006713214.2:c.*505C>T	XP_006713277.1:n.*505C>T
XM_011533869.2:c.*505C>T	XP_011532171.1:n.*505C>T
XM_024453611.1:c.*505C>T	XP_024309379.1:n.*505C>T
NM_001354798.2:c.*539C>T	NP_001341727.1:n.*539C>T