Canonical Allele Identifier: CA551344149
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1057521057
gnomAD v2: 4-52904441-G-A
gnomAD v3: 4-52038275-G-A
gnomAD v4: 4-52038275-G-A
MyVariant Identifiers: chr4:g.52904441G>A (hg19) chr4:g.52038275G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038275G>A , CM000666.2:g.52038275G>A GRCh38
NC_000004.11:g.52904441G>A , CM000666.1:g.52904441G>A GRCh37
NC_000004.10:g.52599198G>A NCBI36
NG_008891.1:g.5045C>T , LRG_204:g.5045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-16C>T MANE Select ENSP00000370839.6:n.-16C>T
ENST00000381431.9:c.-16C>T ENSP00000370839.5:n.-16C>T
NM_000232.4:c.-16C>T , LRG_204t1:c.-16C>T NP_000223.1:n.-16C>T
XM_011534403.1:c.-16C>T XP_011532705.1:n.-16C>T
NM_000232.5:c.-16C>T MANE Select NP_000223.1:n.-16C>T
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