Canonical Allele Identifier: CA365170603

Gene: SOBP

Linked Data

• gnomAD v4: 6-107634486-G-A
• MyVariant Identifiers: chr6:g.107955690G>A (hg19) ; chr6:g.107634486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107634486G>A , CM000668.2:g.107634486G>A	GRCh38
NC_000006.11:g.107955690G>A , CM000668.1:g.107955690G>A	GRCh37
NC_000006.10:g.108062383G>A	NCBI36
NG_028200.1:g.149374G>A
NG_028200.2:g.149374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317357.10:c.1642G>A MANE Select	ENSP00000318900.5:p.Asp548Asn
ENST00000317357.9:c.1642G>A	ENSP00000318900.5:p.Asp548Asn
NM_018013.3:c.1642G>A	NP_060483.3:p.Asp548Asn
XM_005267041.3:c.1795G>A	XP_005267098.1:p.Asp599Asn
XM_005267042.3:c.1699G>A	XP_005267099.1:p.Asp567Asn
XM_011535920.1:c.1795G>A	XP_011534222.1:p.Asp599Asn
XM_011535921.1:c.1681G>A	XP_011534223.1:p.Asp561Asn
XM_011535922.1:c.1054G>A	XP_011534224.1:p.Asp352Asn
XM_011535923.1:c.865G>A	XP_011534225.1:p.Asp289Asn
XM_005267041.4:c.1795G>A	XP_005267098.1:p.Asp599Asn
XM_005267042.4:c.1699G>A	XP_005267099.1:p.Asp567Asn
XM_011535920.2:c.1795G>A	XP_011534222.1:p.Asp599Asn
XM_011535921.2:c.1681G>A	XP_011534223.1:p.Asp561Asn
XM_011535923.2:c.865G>A	XP_011534225.1:p.Asp289Asn
XM_017010991.1:c.1195G>A	XP_016866480.1:p.Asp399Asn
XM_017010992.1:c.1195G>A	XP_016866481.1:p.Asp399Asn
XM_017010993.1:c.1195G>A	XP_016866482.1:p.Asp399Asn
XM_017010994.1:c.1195G>A	XP_016866483.1:p.Asp399Asn
NM_018013.4:c.1642G>A MANE Select	NP_060483.3:p.Asp548Asn