Canonical Allele Identifier: CA361645050

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147498085G>A (hg19) ; chr5:g.148118522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148118522G>A , CM000667.2:g.148118522G>A	GRCh38
NC_000005.9:g.147498085G>A , CM000667.1:g.147498085G>A	GRCh37
NC_000005.8:g.147478278G>A	NCBI36
NG_009633.1:g.59551G>A , LRG_110:g.59551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2198G>A MANE Select	ENSP00000256084.7:p.Gly733Asp
ENST00000256084.7:c.2198G>A	ENSP00000256084.7:p.Gly733Asp
ENST00000359874.7:c.2198G>A	ENSP00000352936.3:p.Gly733Asp
ENST00000398454.5:c.2198G>A	ENSP00000381472.1:p.Gly733Asp
ENST00000507988.5:n.2362G>A
ENST00000508733.5:c.2141G>A	ENSP00000421519.1:p.Gly714Asp
NM_001127698.1:c.2198G>A	NP_001121170.1:p.Gly733Asp
NM_001127699.1:c.2198G>A	NP_001121171.1:p.Gly733Asp
NM_006846.3:c.2198G>A , LRG_110t1:c.2198G>A	NP_006837.2:p.Gly733Asp
XM_011537550.1:c.2141G>A	XP_011535852.1:p.Gly714Asp
XM_011537551.1:c.2114G>A	XP_011535853.1:p.Gly705Asp
XM_011537551.2:c.2114G>A	XP_011535853.1:p.Gly705Asp
NM_001127698.2:c.2198G>A	NP_001121170.1:p.Gly733Asp
NM_001127699.2:c.2198G>A	NP_001121171.1:p.Gly733Asp
NM_006846.4:c.2198G>A MANE Select	NP_006837.2:p.Gly733Asp