Canonical Allele Identifier: CA184742230

Gene: SAMD12

Linked Data

• dbSNP Id: rs17749211
• gnomAD v2: 8-119391409-C-T
• gnomAD v3: 8-118379170-C-T
• gnomAD v4: 8-118379170-C-T
• MyVariant Identifiers: chr8:g.119391409C>T (hg19) ; chr8:g.118379170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118379170C>T , CM000670.2:g.118379170C>T	GRCh38
NC_000008.10:g.119391409C>T , CM000670.1:g.119391409C>T	GRCh37
NC_000008.9:g.119460590C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000314727.9:c.*247G>A MANE Select	ENSP00000314173.4:n.*247G>A
ENST00000409003.5:c.433+390G>A	ENSP00000387133.5:n.433+390G>A
ENST00000445741.6:c.*126+390G>A	ENSP00000387605.1:n.*126+390G>A
ENST00000453675.7:n.171+390G>A
ENST00000524796.6:c.463+390G>A	ENSP00000435927.2:n.463+390G>A
ENST00000526328.6:n.585+390G>A
ENST00000526765.6:n.624+390G>A
ENST00000649198.1:n.487+390G>A
ENST00000314727.8:c.*247G>A	ENSP00000314173.4:n.*247G>A
ENST00000409003.4:c.463+390G>A	ENSP00000387133.4:n.463+390G>A
ENST00000445741.5:c.*126+390G>A	ENSP00000387605.1:n.*126+390G>A
ENST00000453675.6:c.422+390G>A
ENST00000524796.5:c.439+390G>A	ENSP00000435927.1:n.439+390G>A
ENST00000527515.1:n.46+390G>A
NM_001101676.1:c.463+390G>A	NP_001095146.1:n.463+390G>A
NM_207506.2:c.*247G>A	NP_997389.2:n.*247G>A
NR_109794.1:n.507+390G>A
XM_011517031.1:c.463+390G>A	XP_011515333.1:n.463+390G>A
XM_011517032.1:c.463+390G>A	XP_011515334.1:n.463+390G>A
XM_011517033.1:c.463+390G>A	XP_011515335.1:n.463+390G>A
XM_011517034.1:c.463+390G>A	XP_011515336.1:n.463+390G>A
XM_011517035.1:c.463+390G>A	XP_011515337.1:n.463+390G>A
XR_928330.1:n.571+390G>A
XR_928331.1:n.571+390G>A
XR_928332.1:n.571+390G>A
XR_928333.1:n.571+390G>A
XR_928583.1:n.991-15601C>T
XR_928584.1:n.525-15601C>T
NM_001349811.1:c.433+390G>A	NP_001336740.1:n.433+390G>A
NM_001363274.1:c.463+390G>A	NP_001350203.1:n.463+390G>A
NR_146234.1:n.592+390G>A
XM_011517031.3:c.463+390G>A	XP_011515333.1:n.463+390G>A
XM_011517034.3:c.463+390G>A	XP_011515336.1:n.463+390G>A
XM_017013409.2:c.*247G>A	XP_016868898.1:n.*247G>A
XM_017013410.2:c.463+390G>A	XP_016868899.1:n.463+390G>A
XR_001746053.1:n.937-15601C>T
XR_001746054.1:n.946-15601C>T
XR_001746057.1:n.1078-15601C>T
XR_001746058.1:n.937-15601C>T
XR_001746059.1:n.1087-15601C>T
XR_001746060.1:n.864-15601C>T
XR_001746061.1:n.897-15601C>T
XR_001746062.1:n.873-15601C>T
XR_928330.3:n.571+390G>A
XR_928331.3:n.571+390G>A
XR_928332.3:n.571+390G>A
XR_928584.2:n.767-15601C>T
NM_001101676.2:c.463+390G>A	NP_001095146.1:n.463+390G>A
NM_001349811.2:c.433+390G>A	NP_001336740.1:n.433+390G>A
NM_001363274.2:c.463+390G>A	NP_001350203.1:n.463+390G>A
NR_109794.2:n.475+390G>A
NR_146234.2:n.610+390G>A
NM_207506.3:c.*247G>A MANE Select	NP_997389.2:n.*247G>A
NR_109794.3:n.450+390G>A