Canonical Allele Identifier: CA13576006

Gene: SLC6A12

Linked Data

• dbSNP Id: rs499368
• gnomAD v2: 12-320920-T-A
• gnomAD v3: 12-211754-T-A
• gnomAD v4: 12-211754-T-A
• MyVariant Identifiers: chr12:g.320920T>A (hg19) ; chr12:g.211754T>A (hg38)

Genomic Alleles

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

Transcript Alleles

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