Canonical Allele Identifier: CA365170697

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634496-C-A
• MyVariant Identifiers: chr6:g.107955700C>A (hg19) ; chr6:g.107634496C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634496C>A , CM000668.2:g.107634496C>A	GRCh38
NC_000006.11:g.107955700C>A , CM000668.1:g.107955700C>A	GRCh37
NC_000006.10:g.108062393C>A	NCBI36
NG_028200.1:g.149384C>A
NG_028200.2:g.149384C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1652C>A MANE Select	ENSP00000318900.5:p.Pro551His
ENST00000317357.9:c.1652C>A	ENSP00000318900.5:p.Pro551His
NM_018013.3:c.1652C>A	NP_060483.3:p.Pro551His
XM_005267041.3:c.1805C>A	XP_005267098.1:p.Pro602His
XM_005267042.3:c.1709C>A	XP_005267099.1:p.Pro570His
XM_011535920.1:c.1805C>A	XP_011534222.1:p.Pro602His
XM_011535921.1:c.1691C>A	XP_011534223.1:p.Pro564His
XM_011535922.1:c.1064C>A	XP_011534224.1:p.Pro355His
XM_011535923.1:c.875C>A	XP_011534225.1:p.Pro292His
XM_005267041.4:c.1805C>A	XP_005267098.1:p.Pro602His
XM_005267042.4:c.1709C>A	XP_005267099.1:p.Pro570His
XM_011535920.2:c.1805C>A	XP_011534222.1:p.Pro602His
XM_011535921.2:c.1691C>A	XP_011534223.1:p.Pro564His
XM_011535923.2:c.875C>A	XP_011534225.1:p.Pro292His
XM_017010991.1:c.1205C>A	XP_016866480.1:p.Pro402His
XM_017010992.1:c.1205C>A	XP_016866481.1:p.Pro402His
XM_017010993.1:c.1205C>A	XP_016866482.1:p.Pro402His
XM_017010994.1:c.1205C>A	XP_016866483.1:p.Pro402His
NM_018013.4:c.1652C>A MANE Select	NP_060483.3:p.Pro551His