Canonical Allele Identifier: CA2675859314

Gene: SPINK5

Linked Data

• gnomAD v4: 5-148125654-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148125654C>G , CM000667.2:g.148125654C>G	GRCh38
NC_000005.9:g.147505217C>G , CM000667.1:g.147505217C>G	GRCh37
NC_000005.8:g.147485410C>G	NCBI36
NG_009633.1:g.66683C>G , LRG_110:g.66683C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256084.8:c.2740-69C>G MANE Select	ENSP00000256084.7:n.2740-69C>G
ENST00000256084.7:c.2740-69C>G	ENSP00000256084.7:n.2740-69C>G
ENST00000359874.7:c.2829+41C>G	ENSP00000352936.3:n.2829+41C>G
NM_001127698.1:c.2829+41C>G	NP_001121170.1:n.2829+41C>G
NM_006846.3:c.2740-69C>G , LRG_110t1:c.2740-69C>G	NP_006837.2:n.2740-69C>G
XM_011537550.1:c.2772+41C>G	XP_011535852.1:n.2772+41C>G
XM_011537551.1:c.2745+41C>G	XP_011535853.1:n.2745+41C>G
XM_011537551.2:c.2745+41C>G	XP_011535853.1:n.2745+41C>G
NM_001127698.2:c.2829+41C>G	NP_001121170.1:n.2829+41C>G
NM_006846.4:c.2740-69C>G MANE Select	NP_006837.2:n.2740-69C>G