Canonical Allele Identifier: CA361651972

Gene: SPINK5

Linked Data

• dbSNP Id: rs1348461561
• gnomAD v2: 5-147510845-C-A
• gnomAD v4: 5-148131282-C-A
• MyVariant Identifiers: chr5:g.147510845C>A (hg19) ; chr5:g.148131282C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131282C>A , CM000667.2:g.148131282C>A	GRCh38
NC_000005.9:g.147510845C>A , CM000667.1:g.147510845C>A	GRCh37
NC_000005.8:g.147491038C>A	NCBI36
NG_009633.1:g.72311C>A , LRG_110:g.72311C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2988C>A MANE Select	ENSP00000256084.7:p.Tyr996Ter
ENST00000256084.7:c.2988C>A	ENSP00000256084.7:p.Tyr996Ter
ENST00000359874.7:c.3078C>A	ENSP00000352936.3:p.Tyr1026Ter
NM_001127698.1:c.3078C>A	NP_001121170.1:p.Tyr1026Ter
NM_006846.3:c.2988C>A , LRG_110t1:c.2988C>A	NP_006837.2:p.Tyr996Ter
XM_011537550.1:c.3021C>A	XP_011535852.1:p.Tyr1007Ter
XM_011537551.1:c.2994C>A	XP_011535853.1:p.Tyr998Ter
XM_011537551.2:c.2994C>A	XP_011535853.1:p.Tyr998Ter
NM_001127698.2:c.3078C>A	NP_001121170.1:p.Tyr1026Ter
NM_006846.4:c.2988C>A MANE Select	NP_006837.2:p.Tyr996Ter