Canonical Allele Identifier: CA3495514

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 1294236
• ClinVar RCV Id: RCV001716109 ; RCV003487766
• dbSNP Id: rs2303066
• ExAC: 5:147480868 G / A
• gnomAD v2: 5-147480868-G-A
• gnomAD v3: 5-148101305-G-A
• gnomAD v4: 5-148101305-G-A
• MyVariant Identifiers: chr5:g.147480868G>A (hg19) ; chr5:g.148101305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148101305G>A , CM000667.2:g.148101305G>A	GRCh38
NC_000005.9:g.147480868G>A , CM000667.1:g.147480868G>A	GRCh37
NC_000005.8:g.147461061G>A	NCBI36
NG_009633.1:g.42334G>A , LRG_110:g.42334G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000481286.6:n.830-50G>A
ENST00000256084.8:c.1221-50G>A MANE Select	ENSP00000256084.7:n.1221-50G>A
ENST00000256084.7:c.1221-50G>A	ENSP00000256084.7:n.1221-50G>A
ENST00000359874.7:c.1221-50G>A	ENSP00000352936.3:n.1221-50G>A
ENST00000398454.5:c.1221-50G>A	ENSP00000381472.1:n.1221-50G>A
ENST00000476608.1:n.737-50G>A
ENST00000507988.5:n.1385-50G>A
ENST00000508733.5:c.1164-50G>A	ENSP00000421519.1:n.1164-50G>A
NM_001127698.1:c.1221-50G>A	NP_001121170.1:n.1221-50G>A
NM_001127699.1:c.1221-50G>A	NP_001121171.1:n.1221-50G>A
NM_006846.3:c.1221-50G>A , LRG_110t1:c.1221-50G>A	NP_006837.2:n.1221-50G>A
XM_011537550.1:c.1164-50G>A	XP_011535852.1:n.1164-50G>A
XM_011537551.1:c.1137-50G>A	XP_011535853.1:n.1137-50G>A
XM_011537551.2:c.1137-50G>A	XP_011535853.1:n.1137-50G>A
NM_001127698.2:c.1221-50G>A	NP_001121170.1:n.1221-50G>A
NM_001127699.2:c.1221-50G>A	NP_001121171.1:n.1221-50G>A
NM_006846.4:c.1221-50G>A MANE Select	NP_006837.2:n.1221-50G>A