Canonical Allele Identifier: CA361651930

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510836C>G (hg19) ; chr5:g.148131273C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131273C>G , CM000667.2:g.148131273C>G	GRCh38
NC_000005.9:g.147510836C>G , CM000667.1:g.147510836C>G	GRCh37
NC_000005.8:g.147491029C>G	NCBI36
NG_009633.1:g.72302C>G , LRG_110:g.72302C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2979C>G MANE Select	ENSP00000256084.7:p.Cys993Trp
ENST00000256084.7:c.2979C>G	ENSP00000256084.7:p.Cys993Trp
ENST00000359874.7:c.3069C>G	ENSP00000352936.3:p.Cys1023Trp
NM_001127698.1:c.3069C>G	NP_001121170.1:p.Cys1023Trp
NM_006846.3:c.2979C>G , LRG_110t1:c.2979C>G	NP_006837.2:p.Cys993Trp
XM_011537550.1:c.3012C>G	XP_011535852.1:p.Cys1004Trp
XM_011537551.1:c.2985C>G	XP_011535853.1:p.Cys995Trp
XM_011537551.2:c.2985C>G	XP_011535853.1:p.Cys995Trp
NM_001127698.2:c.3069C>G	NP_001121170.1:p.Cys1023Trp
NM_006846.4:c.2979C>G MANE Select	NP_006837.2:p.Cys993Trp