Canonical Allele Identifier: CA1457429917
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737196565
gnomAD v4: 4-52029611-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029611T>C , CM000666.2:g.52029611T>C GRCh38
NC_000004.11:g.52895777T>C , CM000666.1:g.52895777T>C GRCh37
NC_000004.10:g.52590534T>C NCBI36
NG_008891.1:g.13709A>G , LRG_204:g.13709A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.429+67A>G MANE Select ENSP00000370839.6:n.429+67A>G
ENST00000381431.9:c.429+67A>G ENSP00000370839.5:n.429+67A>G
ENST00000506357.5:c.512+67A>G
ENST00000514133.1:c.506+67A>G ENSP00000425818.1:n.506+67A>G
NM_000232.4:c.429+67A>G , LRG_204t1:c.429+67A>G NP_000223.1:n.429+67A>G
XM_006714049.2:c.132+67A>G XP_006714112.1:n.132+67A>G
XM_011534403.1:c.219+67A>G XP_011532705.1:n.219+67A>G
XM_011534404.1:c.132+67A>G XP_011532706.1:n.132+67A>G
NM_000232.5:c.429+67A>G MANE Select NP_000223.1:n.429+67A>G