Canonical Allele Identifier: CA447706051

Gene: SNCB

Linked Data

• dbSNP Id: rs1190905548
• gnomAD v3: 5-176621223-G-A
• gnomAD v4: 5-176621223-G-A
• MyVariant Identifiers: chr5:g.176048224G>A (hg19) ; chr5:g.176621223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176621223G>A , CM000667.2:g.176621223G>A	GRCh38
NC_000005.9:g.176048224G>A , CM000667.1:g.176048224G>A	GRCh37
NC_000005.8:g.175980830G>A	NCBI36
NG_012131.1:g.14334C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393693.7:c.363C>T MANE Select	ENSP00000377296.2:p.Asp121=
ENST00000310112.7:c.363C>T	ENSP00000308057.3:p.Asp121=
ENST00000393693.6:c.363C>T	ENSP00000377296.2:p.Asp121=
ENST00000506696.1:c.363C>T	ENSP00000422223.1:p.Asp121=
ENST00000508006.1:n.960C>T
ENST00000510387.5:c.363C>T	ENSP00000424073.1:p.Asp121=
ENST00000614675.4:c.321C>T	ENSP00000479489.1:p.Asp107=
NM_001001502.1:c.363C>T	NP_001001502.1:p.Asp121=
NM_003085.3:c.363C>T	NP_003076.1:p.Asp121=
XM_006714914.2:c.363C>T	XP_006714977.1:p.Asp121=
XM_006714915.2:c.363C>T	XP_006714978.1:p.Asp121=
XM_006714916.1:c.363C>T	XP_006714979.1:p.Asp121=
XM_011534640.1:c.363C>T	XP_011532942.1:p.Asp121=
NM_001001502.2:c.363C>T	NP_001001502.1:p.Asp121=
NM_001318034.1:c.321C>T	NP_001304963.1:p.Asp107=
NM_001318035.1:c.283-380C>T	NP_001304964.1:n.283-380C>T
NM_001318036.1:c.321C>T	NP_001304965.1:p.Asp107=
NM_001318037.1:c.283-380C>T	NP_001304966.1:n.283-380C>T
NM_001363140.1:c.363C>T	NP_001350069.1:p.Asp121=
NM_003085.4:c.363C>T	NP_003076.1:p.Asp121=
XM_006714914.3:c.363C>T	XP_006714977.1:p.Asp121=
XM_006714915.3:c.363C>T	XP_006714978.1:p.Asp121=
XM_006714916.3:c.363C>T	XP_006714979.1:p.Asp121=
XM_011534640.2:c.363C>T	XP_011532942.1:p.Asp121=
NM_003085.5:c.363C>T MANE Select	NP_003076.1:p.Asp121=
NM_001001502.3:c.363C>T	NP_001001502.1:p.Asp121=
NM_001318035.2:c.283-380C>T	NP_001304964.1:n.283-380C>T
NM_001318036.2:c.321C>T	NP_001304965.1:p.Asp107=
NM_001318037.2:c.283-380C>T	NP_001304966.1:n.283-380C>T
NM_001363140.2:c.363C>T	NP_001350069.1:p.Asp121=
NM_001318034.2:c.321C>T	NP_001304963.1:p.Asp107=