Canonical Allele Identifier: CA3494849
Gene: SPINK1 HGNC NCBI

Linked Data

dbSNP Id: rs746065379
ExAC: 5:147211185 C / T
gnomAD v2: 5-147211185-C-T
gnomAD v4: 5-147831622-C-T
MyVariant Identifiers: chr5:g.147211185C>T (hg19) chr5:g.147831622C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147831622C>T , CM000667.2:g.147831622C>T GRCh38
NC_000005.9:g.147211185C>T , CM000667.1:g.147211185C>T GRCh37
NC_000005.8:g.147191378C>T NCBI36
NG_008356.2:g.12610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.-45G>A MANE Select ENSP00000296695.5:n.-45G>A
ENST00000296695.9:c.-45G>A ENSP00000296695.5:n.-45G>A
ENST00000510027.2:c.-45G>A ENSP00000427376.1:n.-45G>A
NM_003122.4:c.-45G>A NP_003113.2:n.-45G>A
NM_001354966.1:c.-45G>A NP_001341895.1:n.-45G>A
NM_001354966.2:c.-45G>A NP_001341895.1:n.-45G>A
NM_001379610.1:c.-45G>A MANE Select NP_001366539.1:n.-45G>A
NM_003122.5:c.-45G>A NP_003113.2:n.-45G>A
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