Canonical Allele Identifier: CA365171489

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634733-C-A
• MyVariant Identifiers: chr6:g.107955937C>A (hg19) ; chr6:g.107634733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634733C>A , CM000668.2:g.107634733C>A	GRCh38
NC_000006.11:g.107955937C>A , CM000668.1:g.107955937C>A	GRCh37
NC_000006.10:g.108062630C>A	NCBI36
NG_028200.1:g.149621C>A
NG_028200.2:g.149621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1889C>A MANE Select	ENSP00000318900.5:p.Pro630His
ENST00000317357.9:c.1889C>A	ENSP00000318900.5:p.Pro630His
NM_018013.3:c.1889C>A	NP_060483.3:p.Pro630His
XM_005267041.3:c.2042C>A	XP_005267098.1:p.Pro681His
XM_005267042.3:c.1946C>A	XP_005267099.1:p.Pro649His
XM_011535920.1:c.2042C>A	XP_011534222.1:p.Pro681His
XM_011535921.1:c.1928C>A	XP_011534223.1:p.Pro643His
XM_011535922.1:c.1301C>A	XP_011534224.1:p.Pro434His
XM_011535923.1:c.1112C>A	XP_011534225.1:p.Pro371His
XM_005267041.4:c.2042C>A	XP_005267098.1:p.Pro681His
XM_005267042.4:c.1946C>A	XP_005267099.1:p.Pro649His
XM_011535920.2:c.2042C>A	XP_011534222.1:p.Pro681His
XM_011535921.2:c.1928C>A	XP_011534223.1:p.Pro643His
XM_011535923.2:c.1112C>A	XP_011534225.1:p.Pro371His
XM_017010991.1:c.1442C>A	XP_016866480.1:p.Pro481His
XM_017010992.1:c.1442C>A	XP_016866481.1:p.Pro481His
XM_017010993.1:c.1442C>A	XP_016866482.1:p.Pro481His
XM_017010994.1:c.1442C>A	XP_016866483.1:p.Pro481His
NM_018013.4:c.1889C>A MANE Select	NP_060483.3:p.Pro630His