Canonical Allele Identifier: CA2670614485
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038160-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038160G>A , CM000666.2:g.52038160G>A GRCh38
NC_000004.11:g.52904326G>A , CM000666.1:g.52904326G>A GRCh37
NC_000004.10:g.52599083G>A NCBI36
NG_008891.1:g.5160C>T , LRG_204:g.5160C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.33+67C>T MANE Select ENSP00000370839.6:n.33+67C>T
ENST00000381431.9:c.33+67C>T ENSP00000370839.5:n.33+67C>T
ENST00000506357.5:c.19+67C>T
NM_000232.4:c.33+67C>T , LRG_204t1:c.33+67C>T NP_000223.1:n.33+67C>T
XM_011534403.1:c.33+67C>T XP_011532705.1:n.33+67C>T
NM_000232.5:c.33+67C>T MANE Select NP_000223.1:n.33+67C>T