Canonical Allele Identifier: CA356878729
Gene: SGCB HGNC NCBI

Linked Data

gnomAD v4: 4-52038258-A-T
MyVariant Identifiers: chr4:g.52904424A>T (hg19) chr4:g.52038258A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038258A>T , CM000666.2:g.52038258A>T GRCh38
NC_000004.11:g.52904424A>T , CM000666.1:g.52904424A>T GRCh37
NC_000004.10:g.52599181A>T NCBI36
NG_008891.1:g.5062T>A , LRG_204:g.5062T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.2T>A MANE Select ENSP00000370839.6:p.Met1Lys
ENST00000381431.9:c.2T>A ENSP00000370839.5:p.Met1Lys
NM_000232.4:c.2T>A , LRG_204t1:c.2T>A NP_000223.1:p.Met1Lys
XM_011534403.1:c.2T>A XP_011532705.1:p.Met1Lys
NM_000232.5:c.2T>A MANE Select NP_000223.1:p.Met1Lys
Search 100 bp 5'
Search 100 bp 3'