Canonical Allele Identifier: CA2011404251
Gene: SLC6A12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.211754T= , CM000674.2:g.211754T= GRCh38
NC_000012.11:g.320920T= , CM000674.1:g.320920T= GRCh37
NC_000012.10:g.191181T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001122848.3:c.-58+272A= MANE Select NP_001116320.1:n.-58+272A=
ENST00000684302.1:c.-58+272A= MANE Select ENSP00000508194.1:n.-58+272A=
NM_001122847.2:c.-58+272A= NP_001116319.1:n.-58+272A=
NM_001122847.3:c.-58+272A= NP_001116319.1:n.-58+272A=
NM_001122848.2:c.-58+272A= NP_001116320.1:n.-58+272A=
NM_001206931.1:c.-57-1711A= NP_001193860.1:n.-57-1711A=
NM_001206931.2:c.-57-1711A= NP_001193860.1:n.-57-1711A=
NM_003044.4:c.-422+272A= NP_003035.3:n.-422+272A=
NM_003044.5:c.-422+272A= NP_003035.3:n.-422+272A=
ENST00000359674.8:c.-58+272A= ENSP00000352702.4:n.-58+272A=
ENST00000424061.6:c.-422+272A= ENSP00000399136.2:n.-422+272A=
ENST00000535347.5:c.-58+272A= ENSP00000446082.1:n.-58+272A=
ENST00000536116.5:n.120+272A=
ENST00000536824.5:c.-57-1711A= ENSP00000444268.1:n.-57-1711A=
ENST00000537826.1:n.219+272A=
XM_005253747.3:c.-58+272A= XP_005253804.1:n.-58+272A=
XM_005253747.4:c.-58+272A= XP_005253804.1:n.-58+272A=
XM_005253748.3:c.-58+272A= XP_005253805.1:n.-58+272A=
XM_005253748.4:c.-58+272A= XP_005253805.1:n.-58+272A=
XM_006719005.2:c.-58+272A= XP_006719068.1:n.-58+272A=
XM_006719005.3:c.-58+272A= XP_006719068.1:n.-58+272A=
XM_011521010.1:c.-58+272A= XP_011519312.1:n.-58+272A=
XM_011521011.1:c.-58+272A= XP_011519313.1:n.-58+272A=