Canonical Allele Identifier: CA1084765167

Gene: SNCB

Linked Data

• dbSNP Id: rs1759565029
• gnomAD v3: 5-176621139-T-G
• gnomAD v4: 5-176621139-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176621139T>G , CM000667.2:g.176621139T>G	GRCh38
NC_000005.9:g.176048140T>G , CM000667.1:g.176048140T>G	GRCh37
NC_000005.8:g.175980746T>G	NCBI36
NG_012131.1:g.14418A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393693.7:c.372+75A>C MANE Select	ENSP00000377296.2:n.372+75A>C
ENST00000310112.7:c.372+75A>C	ENSP00000308057.3:n.372+75A>C
ENST00000393693.6:c.372+75A>C	ENSP00000377296.2:n.372+75A>C
ENST00000506696.1:c.372+75A>C	ENSP00000422223.1:n.372+75A>C
ENST00000510387.5:c.372+75A>C	ENSP00000424073.1:n.372+75A>C
ENST00000614675.4:c.330+75A>C	ENSP00000479489.1:n.330+75A>C
NM_001001502.1:c.372+75A>C	NP_001001502.1:n.372+75A>C
NM_003085.3:c.372+75A>C	NP_003076.1:n.372+75A>C
XM_006714914.2:c.447A>C	XP_006714977.1:p.Thr149=
XM_006714915.2:c.447A>C	XP_006714978.1:p.Thr149=
XM_006714916.1:c.372+75A>C	XP_006714979.1:n.372+75A>C
XM_011534640.1:c.447A>C	XP_011532942.1:p.Thr149=
NM_001001502.2:c.372+75A>C	NP_001001502.1:n.372+75A>C
NM_001318034.1:c.330+75A>C	NP_001304963.1:n.330+75A>C
NM_001318035.1:c.283-296A>C	NP_001304964.1:n.283-296A>C
NM_001318036.1:c.330+75A>C	NP_001304965.1:n.330+75A>C
NM_001318037.1:c.283-296A>C	NP_001304966.1:n.283-296A>C
NM_001363140.1:c.372+75A>C	NP_001350069.1:n.372+75A>C
NM_003085.4:c.372+75A>C	NP_003076.1:n.372+75A>C
XM_006714914.3:c.447A>C	XP_006714977.1:p.Thr149=
XM_006714915.3:c.447A>C	XP_006714978.1:p.Thr149=
XM_006714916.3:c.372+75A>C	XP_006714979.1:n.372+75A>C
XM_011534640.2:c.447A>C	XP_011532942.1:p.Thr149=
NM_003085.5:c.372+75A>C MANE Select	NP_003076.1:n.372+75A>C
NM_001001502.3:c.372+75A>C	NP_001001502.1:n.372+75A>C
NM_001318035.2:c.283-296A>C	NP_001304964.1:n.283-296A>C
NM_001318036.2:c.330+75A>C	NP_001304965.1:n.330+75A>C
NM_001318037.2:c.283-296A>C	NP_001304966.1:n.283-296A>C
NM_001363140.2:c.372+75A>C	NP_001350069.1:n.372+75A>C
NM_001318034.2:c.330+75A>C	NP_001304963.1:n.330+75A>C