Canonical Allele Identifier: CA439274327

Gene: SGCB

Linked Data

• MyVariant Identifiers: chr4:g.52895934T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029768T>G , CM000666.2:g.52029768T>G	GRCh38
NC_000004.11:g.52895934T>G , CM000666.1:g.52895934T>G	GRCh37
NC_000004.10:g.52590691T>G	NCBI36
NG_008891.1:g.13552A>C , LRG_204:g.13552A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.339A>C MANE Select	ENSP00000370839.6:p.Val113=
ENST00000381431.9:c.339A>C	ENSP00000370839.5:p.Val113=
ENST00000506357.5:c.422A>C
ENST00000514133.1:c.416A>C	ENSP00000425818.1:n.416A>C
NM_000232.4:c.339A>C , LRG_204t1:c.339A>C	NP_000223.1:p.Val113=
XM_006714049.2:c.42A>C	XP_006714112.1:p.Val14=
XM_011534403.1:c.129A>C	XP_011532705.1:p.Val43=
XM_011534404.1:c.42A>C	XP_011532706.1:p.Val14=
NM_000232.5:c.339A>C MANE Select	NP_000223.1:p.Val113=