Canonical Allele Identifier: CA361651872

Gene: SPINK5

Linked Data

• MyVariant Identifiers: chr5:g.147510825T>C (hg19) ; chr5:g.148131262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131262T>C , CM000667.2:g.148131262T>C	GRCh38
NC_000005.9:g.147510825T>C , CM000667.1:g.147510825T>C	GRCh37
NC_000005.8:g.147491018T>C	NCBI36
NG_009633.1:g.72291T>C , LRG_110:g.72291T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2968T>C MANE Select	ENSP00000256084.7:p.Ser990Pro
ENST00000256084.7:c.2968T>C	ENSP00000256084.7:p.Ser990Pro
ENST00000359874.7:c.3058T>C	ENSP00000352936.3:p.Ser1020Pro
NM_001127698.1:c.3058T>C	NP_001121170.1:p.Ser1020Pro
NM_006846.3:c.2968T>C , LRG_110t1:c.2968T>C	NP_006837.2:p.Ser990Pro
XM_011537550.1:c.3001T>C	XP_011535852.1:p.Ser1001Pro
XM_011537551.1:c.2974T>C	XP_011535853.1:p.Ser992Pro
XM_011537551.2:c.2974T>C	XP_011535853.1:p.Ser992Pro
NM_001127698.2:c.3058T>C	NP_001121170.1:p.Ser1020Pro
NM_006846.4:c.2968T>C MANE Select	NP_006837.2:p.Ser990Pro