Canonical Allele Identifier: CA2675856476

Gene: SPINK5

Linked Data

• gnomAD v4: 5-148107252-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107252G>A , CM000667.2:g.148107252G>A	GRCh38
NC_000005.9:g.147486815G>A , CM000667.1:g.147486815G>A	GRCh37
NC_000005.8:g.147467008G>A	NCBI36
NG_009633.1:g.48281G>A , LRG_110:g.48281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1216+88G>A
ENST00000256084.8:c.1607+88G>A MANE Select	ENSP00000256084.7:n.1607+88G>A
ENST00000256084.7:c.1607+88G>A	ENSP00000256084.7:n.1607+88G>A
ENST00000359874.7:c.1607+88G>A	ENSP00000352936.3:n.1607+88G>A
ENST00000398454.5:c.1607+88G>A	ENSP00000381472.1:n.1607+88G>A
ENST00000507988.5:n.1771+88G>A
ENST00000508733.5:c.1550+88G>A	ENSP00000421519.1:n.1550+88G>A
NM_001127698.1:c.1607+88G>A	NP_001121170.1:n.1607+88G>A
NM_001127699.1:c.1607+88G>A	NP_001121171.1:n.1607+88G>A
NM_006846.3:c.1607+88G>A , LRG_110t1:c.1607+88G>A	NP_006837.2:n.1607+88G>A
XM_011537550.1:c.1550+88G>A	XP_011535852.1:n.1550+88G>A
XM_011537551.1:c.1523+88G>A	XP_011535853.1:n.1523+88G>A
XM_011537551.2:c.1523+88G>A	XP_011535853.1:n.1523+88G>A
NM_001127698.2:c.1607+88G>A	NP_001121170.1:n.1607+88G>A
NM_001127699.2:c.1607+88G>A	NP_001121171.1:n.1607+88G>A
NM_006846.4:c.1607+88G>A MANE Select	NP_006837.2:n.1607+88G>A