Canonical Allele Identifier: CA361644865

Gene: SPINK5

Linked Data

• dbSNP Id: rs1161115892
• gnomAD v2: 5-147498060-A-G
• gnomAD v4: 5-148118497-A-G
• MyVariant Identifiers: chr5:g.147498060A>G (hg19) ; chr5:g.148118497A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148118497A>G , CM000667.2:g.148118497A>G	GRCh38
NC_000005.9:g.147498060A>G , CM000667.1:g.147498060A>G	GRCh37
NC_000005.8:g.147478253A>G	NCBI36
NG_009633.1:g.59526A>G , LRG_110:g.59526A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2173A>G MANE Select	ENSP00000256084.7:p.Ser725Gly
ENST00000256084.7:c.2173A>G	ENSP00000256084.7:p.Ser725Gly
ENST00000359874.7:c.2173A>G	ENSP00000352936.3:p.Ser725Gly
ENST00000398454.5:c.2173A>G	ENSP00000381472.1:p.Ser725Gly
ENST00000507988.5:n.2337A>G
ENST00000508733.5:c.2116A>G	ENSP00000421519.1:p.Ser706Gly
NM_001127698.1:c.2173A>G	NP_001121170.1:p.Ser725Gly
NM_001127699.1:c.2173A>G	NP_001121171.1:p.Ser725Gly
NM_006846.3:c.2173A>G , LRG_110t1:c.2173A>G	NP_006837.2:p.Ser725Gly
XM_011537550.1:c.2116A>G	XP_011535852.1:p.Ser706Gly
XM_011537551.1:c.2089A>G	XP_011535853.1:p.Ser697Gly
XM_011537551.2:c.2089A>G	XP_011535853.1:p.Ser697Gly
NM_001127698.2:c.2173A>G	NP_001121170.1:p.Ser725Gly
NM_001127699.2:c.2173A>G	NP_001121171.1:p.Ser725Gly
NM_006846.4:c.2173A>G MANE Select	NP_006837.2:p.Ser725Gly