Canonical Allele Identifier: CA12876650
Gene: SLC18A1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.20174592T>C
GRCh37 chr8:g.20032103T>C
gnomAD v2:
8:20032103 T / C
gnomAD v3:
8:20174592 T / C
gnomAD v4:
chr8-20174592-T-C
Joint Max Group AF 0.18183717 (MID)
Genomes Max Group AF 0.17203383 (NFE)
Exomes Max Group AF 0.17349594 (NFE)
dbSNP:
3779672
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20174592T>C , CM000670.2:g.20174592T>C GRCh38
NC_000008.10:g.20032103T>C , CM000670.1:g.20032103T>C GRCh37
NC_000008.9:g.20076383T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000276373.10:c.548-148A>G MANE Select ENSP00000276373.5:n.548-148A>G
ENST00000265808.11:c.548-148A>G ENSP00000265808.7:n.548-148A>G
ENST00000276373.9:c.548-148A>G ENSP00000276373.5:n.548-148A>G
ENST00000381608.8:c.548-148A>G ENSP00000371021.4:n.548-148A>G
ENST00000437980.3:c.548-148A>G ENSP00000413361.1:n.548-148A>G
ENST00000440926.3:c.548-148A>G ENSP00000387549.1:n.548-148A>G
ENST00000517776.5:c.548-148A>G ENSP00000428001.1:n.548-148A>G
ENST00000519026.5:c.548-148A>G ENSP00000429664.1:n.548-148A>G
ENST00000522513.5:c.548-1464A>G ENSP00000428999.1:n.548-1464A>G
ENST00000524272.1:n.600-148A>G
NM_001135691.2:c.548-148A>G NP_001129163.1:n.548-148A>G
NM_001142324.1:c.548-148A>G NP_001135796.1:n.548-148A>G
NM_001142325.1:c.548-148A>G NP_001135797.1:n.548-148A>G
NM_003053.3:c.548-148A>G NP_003044.1:n.548-148A>G
XM_011544623.1:c.548-148A>G XP_011542925.1:n.548-148A>G
XM_011544624.1:c.548-148A>G XP_011542926.1:n.548-148A>G
XM_011544625.1:c.548-1464A>G XP_011542927.1:n.548-1464A>G
XM_011544626.1:c.548-148A>G XP_011542928.1:n.548-148A>G
XM_011544627.1:c.548-148A>G XP_011542929.1:n.548-148A>G
XM_011544628.1:c.548-148A>G XP_011542930.1:n.548-148A>G
NM_003053.4:c.548-148A>G MANE Select NP_003044.1:n.548-148A>G
NM_001142324.2:c.548-148A>G NP_001135796.1:n.548-148A>G
NM_001135691.3:c.548-148A>G NP_001129163.1:n.548-148A>G
NM_001142325.2:c.548-148A>G NP_001135797.1:n.548-148A>G
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