Canonical Allele Identifier: CA16042508
Gene: SPINK5 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.148125722G>C
GRCh37 chr5:g.147505285G>C
gnomAD v3:
5:148125722 G / C
gnomAD v4:
chr5-148125722-G-C
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000413920
RCV003761967
ClinVar Variation:
372908
dbSNP:
1057518067
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148125722G>C , CM000667.2:g.148125722G>C GRCh38
NC_000005.9:g.147505285G>C , CM000667.1:g.147505285G>C GRCh37
NC_000005.8:g.147485478G>C NCBI36
NG_009633.1:g.66751G>C , LRG_110:g.66751G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2740-1G>C MANE Select ENSP00000256084.7:n.2740-1G>C
ENST00000256084.7:c.2740-1G>C ENSP00000256084.7:n.2740-1G>C
ENST00000359874.7:c.2830-1G>C ENSP00000352936.3:n.2830-1G>C
NM_001127698.1:c.2830-1G>C NP_001121170.1:n.2830-1G>C
NM_006846.3:c.2740-1G>C , LRG_110t1:c.2740-1G>C NP_006837.2:n.2740-1G>C
XM_011537550.1:c.2773-1G>C XP_011535852.1:n.2773-1G>C
XM_011537551.1:c.2746-1G>C XP_011535853.1:n.2746-1G>C
XM_011537551.2:c.2746-1G>C XP_011535853.1:n.2746-1G>C
NM_001127698.2:c.2830-1G>C NP_001121170.1:n.2830-1G>C
NM_006846.4:c.2740-1G>C MANE Select NP_006837.2:n.2740-1G>C
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