Canonical Allele Identifier: CA356877307
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029770C>A , CM000666.2:g.52029770C>A GRCh38
NC_000004.11:g.52895936C>A , CM000666.1:g.52895936C>A GRCh37
NC_000004.10:g.52590693C>A NCBI36
NG_008891.1:g.13550G>T , LRG_204:g.13550G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.337G>T MANE Select ENSP00000370839.6:p.Val113Leu
ENST00000381431.9:c.337G>T ENSP00000370839.5:p.Val113Leu
ENST00000506357.5:c.420G>T
ENST00000514133.1:c.414G>T ENSP00000425818.1:n.414G>T
NM_000232.4:c.337G>T , LRG_204t1:c.337G>T NP_000223.1:p.Val113Leu
XM_006714049.2:c.40G>T XP_006714112.1:p.Val14Leu
XM_011534403.1:c.127G>T XP_011532705.1:p.Val43Leu
XM_011534404.1:c.40G>T XP_011532706.1:p.Val14Leu
NM_000232.5:c.337G>T MANE Select NP_000223.1:p.Val113Leu