Canonical Allele Identifier: CA362260472

Gene: SNCB

Linked Data

• MyVariant Identifiers: chr5:g.176048233A>C (hg19) ; chr5:g.176621232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.176621232A>C , CM000667.2:g.176621232A>C	GRCh38
NC_000005.9:g.176048233A>C , CM000667.1:g.176048233A>C	GRCh37
NC_000005.8:g.175980839A>C	NCBI36
NG_012131.1:g.14325T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393693.7:c.354T>G MANE Select	ENSP00000377296.2:p.Ser118Arg
ENST00000310112.7:c.354T>G	ENSP00000308057.3:p.Ser118Arg
ENST00000393693.6:c.354T>G	ENSP00000377296.2:p.Ser118Arg
ENST00000506696.1:c.354T>G	ENSP00000422223.1:p.Ser118Arg
ENST00000508006.1:n.951T>G
ENST00000510387.5:c.354T>G	ENSP00000424073.1:p.Ser118Arg
ENST00000614675.4:c.312T>G	ENSP00000479489.1:p.Ser104Arg
NM_001001502.1:c.354T>G	NP_001001502.1:p.Ser118Arg
NM_003085.3:c.354T>G	NP_003076.1:p.Ser118Arg
XM_006714914.2:c.354T>G	XP_006714977.1:p.Ser118Arg
XM_006714915.2:c.354T>G	XP_006714978.1:p.Ser118Arg
XM_006714916.1:c.354T>G	XP_006714979.1:p.Ser118Arg
XM_011534640.1:c.354T>G	XP_011532942.1:p.Ser118Arg
NM_001001502.2:c.354T>G	NP_001001502.1:p.Ser118Arg
NM_001318034.1:c.312T>G	NP_001304963.1:p.Ser104Arg
NM_001318035.1:c.283-389T>G	NP_001304964.1:n.283-389T>G
NM_001318036.1:c.312T>G	NP_001304965.1:p.Ser104Arg
NM_001318037.1:c.283-389T>G	NP_001304966.1:n.283-389T>G
NM_001363140.1:c.354T>G	NP_001350069.1:p.Ser118Arg
NM_003085.4:c.354T>G	NP_003076.1:p.Ser118Arg
XM_006714914.3:c.354T>G	XP_006714977.1:p.Ser118Arg
XM_006714915.3:c.354T>G	XP_006714978.1:p.Ser118Arg
XM_006714916.3:c.354T>G	XP_006714979.1:p.Ser118Arg
XM_011534640.2:c.354T>G	XP_011532942.1:p.Ser118Arg
NM_003085.5:c.354T>G MANE Select	NP_003076.1:p.Ser118Arg
NM_001001502.3:c.354T>G	NP_001001502.1:p.Ser118Arg
NM_001318035.2:c.283-389T>G	NP_001304964.1:n.283-389T>G
NM_001318036.2:c.312T>G	NP_001304965.1:p.Ser104Arg
NM_001318037.2:c.283-389T>G	NP_001304966.1:n.283-389T>G
NM_001363140.2:c.354T>G	NP_001350069.1:p.Ser118Arg
NM_001318034.2:c.312T>G	NP_001304963.1:p.Ser104Arg