Canonical Allele Identifier: CA361635404

Gene: SPINK5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148097988C>G , CM000667.2:g.148097988C>G	GRCh38
NC_000005.9:g.147477551C>G , CM000667.1:g.147477551C>G	GRCh37
NC_000005.8:g.147457744C>G	NCBI36
NG_009633.1:g.39017C>G , LRG_110:g.39017C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.613C>G
ENST00000698105.1:n.874C>G
ENST00000256084.8:c.1004C>G MANE Select	ENSP00000256084.7:p.Ala335Gly
ENST00000256084.7:c.1004C>G	ENSP00000256084.7:p.Ala335Gly
ENST00000359874.7:c.1004C>G	ENSP00000352936.3:p.Ala335Gly
ENST00000398454.5:c.1004C>G	ENSP00000381472.1:p.Ala335Gly
ENST00000476608.1:n.520C>G
ENST00000481286.5:n.450C>G
ENST00000507988.5:n.1168C>G
ENST00000508733.5:c.947C>G	ENSP00000421519.1:p.Ala316Gly
NM_001127698.1:c.1004C>G	NP_001121170.1:p.Ala335Gly
NM_001127699.1:c.1004C>G	NP_001121171.1:p.Ala335Gly
NM_006846.3:c.1004C>G , LRG_110t1:c.1004C>G	NP_006837.2:p.Ala335Gly
XM_011537550.1:c.947C>G	XP_011535852.1:p.Ala316Gly
XM_011537551.1:c.920C>G	XP_011535853.1:p.Ala307Gly
XM_011537551.2:c.920C>G	XP_011535853.1:p.Ala307Gly
NM_001127698.2:c.1004C>G	NP_001121170.1:p.Ala335Gly
NM_001127699.2:c.1004C>G	NP_001121171.1:p.Ala335Gly
NM_006846.4:c.1004C>G MANE Select	NP_006837.2:p.Ala335Gly