Canonical Allele Identifier: CA391148555
Gene: GSC HGNC NCBI

Linked Data

dbSNP Id: rs587777289
gnomAD v2: 14-95235510-G-T
gnomAD v4: 14-94769173-G-T
MyVariant Identifiers: chr14:g.95235510G>T (hg19) chr14:g.94769173G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94769173G>T , CM000676.2:g.94769173G>T GRCh38
NC_000014.8:g.95235510G>T , CM000676.1:g.95235510G>T GRCh37
NC_000014.7:g.94305263G>T NCBI36
NG_034111.1:g.5990C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000238558.5:c.400C>A MANE Select ENSP00000238558.3:p.Gln134Lys
ENST00000238558.4:c.400C>A ENSP00000238558.3:p.Gln134Lys
NM_173849.2:c.400C>A NP_776248.1:p.Gln134Lys
NM_173849.3:c.400C>A MANE Select NP_776248.1:p.Gln134Lys
Search 100 bp 5'
Search 100 bp 3'