Canonical Allele Identifier: CA3946579

Gene: SOBP

Linked Data

• dbSNP Id: rs757200340
• ExAC: 6:107955799 C / A
• gnomAD v2: 6-107955799-C-A
• gnomAD v4: 6-107634595-C-A
• MyVariant Identifiers: chr6:g.107955799C>A (hg19) ; chr6:g.107634595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634595C>A , CM000668.2:g.107634595C>A	GRCh38
NC_000006.11:g.107955799C>A , CM000668.1:g.107955799C>A	GRCh37
NC_000006.10:g.108062492C>A	NCBI36
NG_028200.1:g.149483C>A
NG_028200.2:g.149483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1751C>A MANE Select	ENSP00000318900.5:p.Pro584His
ENST00000317357.9:c.1751C>A	ENSP00000318900.5:p.Pro584His
NM_018013.3:c.1751C>A	NP_060483.3:p.Pro584His
XM_005267041.3:c.1904C>A	XP_005267098.1:p.Pro635His
XM_005267042.3:c.1808C>A	XP_005267099.1:p.Pro603His
XM_011535920.1:c.1904C>A	XP_011534222.1:p.Pro635His
XM_011535921.1:c.1790C>A	XP_011534223.1:p.Pro597His
XM_011535922.1:c.1163C>A	XP_011534224.1:p.Pro388His
XM_011535923.1:c.974C>A	XP_011534225.1:p.Pro325His
XM_005267041.4:c.1904C>A	XP_005267098.1:p.Pro635His
XM_005267042.4:c.1808C>A	XP_005267099.1:p.Pro603His
XM_011535920.2:c.1904C>A	XP_011534222.1:p.Pro635His
XM_011535921.2:c.1790C>A	XP_011534223.1:p.Pro597His
XM_011535923.2:c.974C>A	XP_011534225.1:p.Pro325His
XM_017010991.1:c.1304C>A	XP_016866480.1:p.Pro435His
XM_017010992.1:c.1304C>A	XP_016866481.1:p.Pro435His
XM_017010993.1:c.1304C>A	XP_016866482.1:p.Pro435His
XM_017010994.1:c.1304C>A	XP_016866483.1:p.Pro435His
NM_018013.4:c.1751C>A MANE Select	NP_060483.3:p.Pro584His