Canonical Allele Identifier: CA512336969

Gene: SON

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33551760T>C , CM000683.2:g.33551760T>C	GRCh38
NC_000021.8:g.34924066T>C , CM000683.1:g.34924066T>C	GRCh37
NC_000021.7:g.33845936T>C	NCBI36
NG_052981.1:g.13723T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138927.4:c.2529T>C MANE Select	NP_620305.3:p.Ser843=
ENST00000356577.10:c.2529T>C MANE Select	ENSP00000348984.4:p.Ser843=
NM_001291411.1:c.2529T>C	NP_001278340.1:p.Ser843=
NM_001291411.2:c.2529T>C	NP_001278340.2:p.Ser843=
NM_001291412.1:c.244+5381T>C	NP_001278341.1:n.244+5381T>C
NM_001291412.2:c.244+5381T>C	NP_001278341.1:n.244+5381T>C
NM_001291412.3:c.244+5381T>C	NP_001278341.1:n.244+5381T>C
NM_032195.2:c.2529T>C	NP_115571.2:p.Ser843=
NM_032195.3:c.2529T>C	NP_115571.3:p.Ser843=
NM_138927.2:c.2529T>C	NP_620305.2:p.Ser843=
NM_138927.3:c.2529T>C	NP_620305.2:p.Ser843=
NR_103797.1:n.2584T>C
NR_103797.2:n.2584T>C
ENST00000300278.8:c.2529T>C	ENSP00000300278.2:p.Ser843=
ENST00000356577.8:c.2529T>C	ENSP00000348984.4:p.Ser843=
ENST00000381679.8:c.2529T>C	ENSP00000371095.4:p.Ser843=
ENST00000381692.6:c.244+5381T>C	ENSP00000371111.2:n.244+5381T>C
ENST00000455528.5:c.2529T>C	ENSP00000399783.1:p.Ser843=
ENST00000695559.1:c.244+5381T>C	ENSP00000512016.1:n.244+5381T>C
ENST00000704334.1:c.244+5381T>C	ENSP00000515848.1:n.244+5381T>C