Canonical Allele Identifier: CA3495476

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 260042
• ClinVar RCV Id: RCV000244613 ; RCV000306987 ; RCV001640541 ; RCV003761864
• dbSNP Id: rs2303062
• ExAC: 5:147480007 A / G
• gnomAD v2: 5-147480007-A-G
• gnomAD v3: 5-148100444-A-G
• gnomAD v4: 5-148100444-A-G
• MyVariant Identifiers: chr5:g.147480007A>G (hg19) ; chr5:g.148100444A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148100444A>G , CM000667.2:g.148100444A>G	GRCh38
NC_000005.9:g.147480007A>G , CM000667.1:g.147480007A>G	GRCh37
NC_000005.8:g.147460200A>G	NCBI36
NG_009633.1:g.41473A>G , LRG_110:g.41473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.702-10A>G
ENST00000256084.8:c.1093-10A>G MANE Select	ENSP00000256084.7:n.1093-10A>G
ENST00000256084.7:c.1093-10A>G	ENSP00000256084.7:n.1093-10A>G
ENST00000359874.7:c.1093-10A>G	ENSP00000352936.3:n.1093-10A>G
ENST00000398454.5:c.1093-10A>G	ENSP00000381472.1:n.1093-10A>G
ENST00000476608.1:n.609-10A>G
ENST00000507988.5:n.1257-10A>G
ENST00000508733.5:c.1036-10A>G	ENSP00000421519.1:n.1036-10A>G
NM_001127698.1:c.1093-10A>G	NP_001121170.1:n.1093-10A>G
NM_001127699.1:c.1093-10A>G	NP_001121171.1:n.1093-10A>G
NM_006846.3:c.1093-10A>G , LRG_110t1:c.1093-10A>G	NP_006837.2:n.1093-10A>G
XM_011537550.1:c.1036-10A>G	XP_011535852.1:n.1036-10A>G
XM_011537551.1:c.1009-10A>G	XP_011535853.1:n.1009-10A>G
XM_011537551.2:c.1009-10A>G	XP_011535853.1:n.1009-10A>G
NM_001127698.2:c.1093-10A>G	NP_001121170.1:n.1093-10A>G
NM_001127699.2:c.1093-10A>G	NP_001121171.1:n.1093-10A>G
NM_006846.4:c.1093-10A>G MANE Select	NP_006837.2:n.1093-10A>G