Canonical Allele Identifier: CA128518026
Gene: SLC25A48 HGNC NCBI
NEUROG1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.135535750A>C
GRCh37 chr5:g.134871440A>C
gnomAD v2:
5:134871440 A / C
gnomAD v3:
5:135535750 A / C
gnomAD v4:
chr5-135535750-A-C
Joint Max Group AF 0.24414743 (MID)
Genomes Max Group AF 0.2507468 (SAS)
Exomes Max Group AF 0.24287907 (MID)
dbSNP:
8192558
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135535750A>C , CM000667.2:g.135535750A>C GRCh38
NC_000005.9:g.134871440A>C , CM000667.1:g.134871440A>C GRCh37
NC_000005.8:g.134899339A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000698885.1:n.364+25994A>C (SLC25A48)
ENST00000314744.6:c.-60T>G (NEUROG1) MANE Select ENSP00000317580.4:n.-60T>G
ENST00000314744.5:c.-60T>G (NEUROG1) ENSP00000317580.4:n.-60T>G
NM_006161.2:c.-60T>G (NEUROG1) NP_006152.2:n.-60T>G
NM_006161.3:c.-60T>G (NEUROG1) MANE Select NP_006152.2:n.-60T>G
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