Canonical Allele Identifier: CA414377474

Gene: SLC25A43

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119406462T>C , CM000685.2:g.119406462T>C	GRCh38
NC_000023.10:g.118540425T>C , CM000685.1:g.118540425T>C	GRCh37
NC_000023.9:g.118424453T>C	NCBI36
NG_016298.1:g.12168T>C
NG_016298.2:g.12168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217909.8:c.278T>C MANE Select	ENSP00000217909.7:p.Phe93Ser
ENST00000217909.7:c.278T>C	ENSP00000217909.7:p.Phe93Ser
ENST00000488158.5:n.302T>C
ENST00000493093.5:n.271-3728T>C
NM_145305.2:c.278T>C	NP_660348.2:p.Phe93Ser
XR_938545.1:n.356T>C
XR_938546.1:n.356T>C
XR_938547.1:n.356T>C
XM_017029340.1:c.278T>C	XP_016884829.1:p.Phe93Ser
XM_017029341.1:c.278T>C	XP_016884830.1:p.Phe93Ser
XR_001755661.1:n.356T>C
XR_001755662.1:n.356T>C
XR_001755663.1:n.356T>C
XR_001755664.1:n.356T>C
NM_145305.3:c.278T>C MANE Select	NP_660348.2:p.Phe93Ser