Canonical Allele Identifier: CA1769208275
Community Standard Title: NM_003053.4(SLC18A1):c.548-632C=
Gene: SLC18A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.20175076G= , CM000670.2:g.20175076G= GRCh38
NC_000008.10:g.20032587G= , CM000670.1:g.20032587G= GRCh37
NC_000008.9:g.20076867G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003053.4:c.548-632C= MANE Select NP_003044.1:n.548-632C=
ENST00000276373.10:c.548-632C= MANE Select ENSP00000276373.5:n.548-632C=
NM_001135691.2:c.548-632C= NP_001129163.1:n.548-632C=
NM_001135691.3:c.548-632C= NP_001129163.1:n.548-632C=
NM_001142324.1:c.548-632C= NP_001135796.1:n.548-632C=
NM_001142324.2:c.548-632C= NP_001135796.1:n.548-632C=
NM_001142325.1:c.548-632C= NP_001135797.1:n.548-632C=
NM_001142325.2:c.548-632C= NP_001135797.1:n.548-632C=
NM_003053.3:c.548-632C= NP_003044.1:n.548-632C=
ENST00000265808.11:c.548-632C= ENSP00000265808.7:n.548-632C=
ENST00000276373.9:c.548-632C= ENSP00000276373.5:n.548-632C=
ENST00000381608.8:c.548-632C= ENSP00000371021.4:n.548-632C=
ENST00000437980.3:c.548-632C= ENSP00000413361.1:n.548-632C=
ENST00000440926.3:c.548-632C= ENSP00000387549.1:n.548-632C=
ENST00000517776.5:c.548-632C= ENSP00000428001.1:n.548-632C=
ENST00000519026.5:c.548-632C= ENSP00000429664.1:n.548-632C=
ENST00000522513.5:c.548-1948C= ENSP00000428999.1:n.548-1948C=
ENST00000524272.1:n.599+248C=
XM_011544623.1:c.548-632C= XP_011542925.1:n.548-632C=
XM_011544624.1:c.548-632C= XP_011542926.1:n.548-632C=
XM_011544625.1:c.548-1948C= XP_011542927.1:n.548-1948C=
XM_011544626.1:c.548-632C= XP_011542928.1:n.548-632C=
XM_011544627.1:c.548-632C= XP_011542929.1:n.548-632C=
XM_011544628.1:c.548-632C= XP_011542930.1:n.548-632C=