Canonical Allele Identifier: CA291405276
Gene: GIP HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.48961768A>T
GRCh37 chr17:g.47039130A>T
Revel Score:
ENST00000357424 (MANE Select) 0.052
gnomAD v3:
17:48961768 A / T
gnomAD v4:
chr17-48961768-A-T
Joint Max Group AF 0.00000739 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48961768A>T , CM000679.2:g.48961768A>T GRCh38
NC_000017.10:g.47039130A>T , CM000679.1:g.47039130A>T GRCh37
NC_000017.9:g.44394129A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357424.2:c.309T>A MANE Select ENSP00000350005.2:p.Ser103Arg
NM_004123.2:c.309T>A NP_004114.1:p.Ser103Arg
NM_004123.3:c.309T>A MANE Select NP_004114.1:p.Ser103Arg
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