Allele Registry

Canonical Allele Identifier: CA10602948

Gene: SPINK5 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr5:g.148120320A>T

GRCh37 chr5:g.147499883A>T

Linked Data - Sequence & Population

gnomAD v4:

chr5-148120320-A-T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000296326

ClinVar Variation:

280272

dbSNP:

886041508

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148120320A>T , CM000667.2:g.148120320A>T	GRCh38
NC_000005.9:g.147499883A>T , CM000667.1:g.147499883A>T	GRCh37
NC_000005.8:g.147480076A>T	NCBI36
NG_009633.1:g.61349A>T , LRG_110:g.61349A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2467A>T MANE Select	ENSP00000256084.7:p.Lys823Ter
ENST00000256084.7:c.2467A>T	ENSP00000256084.7:p.Lys823Ter
ENST00000359874.7:c.2467A>T	ENSP00000352936.3:p.Lys823Ter
ENST00000398454.5:c.2467A>T	ENSP00000381472.1:p.Lys823Ter
ENST00000508733.5:c.2410A>T	ENSP00000421519.1:p.Lys804Ter
NM_001127698.1:c.2467A>T	NP_001121170.1:p.Lys823Ter
NM_001127699.1:c.2467A>T	NP_001121171.1:p.Lys823Ter
NM_006846.3:c.2467A>T , LRG_110t1:c.2467A>T	NP_006837.2:p.Lys823Ter
XM_011537550.1:c.2410A>T	XP_011535852.1:p.Lys804Ter
XM_011537551.1:c.2383A>T	XP_011535853.1:p.Lys795Ter
XM_011537551.2:c.2383A>T	XP_011535853.1:p.Lys795Ter
NM_001127698.2:c.2467A>T	NP_001121170.1:p.Lys823Ter
NM_001127699.2:c.2467A>T	NP_001121171.1:p.Lys823Ter
NM_006846.4:c.2467A>T MANE Select	NP_006837.2:p.Lys823Ter

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