Canonical Allele Identifier: CA361652115

Gene: SPINK5

Linked Data

• dbSNP Id: rs1222355841
• gnomAD v3: 5-148131319-G-T
• gnomAD v4: 5-148131319-G-T
• MyVariant Identifiers: chr5:g.147510882G>T (hg19) ; chr5:g.148131319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131319G>T , CM000667.2:g.148131319G>T	GRCh38
NC_000005.9:g.147510882G>T , CM000667.1:g.147510882G>T	GRCh37
NC_000005.8:g.147491075G>T	NCBI36
NG_009633.1:g.72348G>T , LRG_110:g.72348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3025G>T MANE Select	ENSP00000256084.7:p.Asp1009Tyr
ENST00000256084.7:c.3025G>T	ENSP00000256084.7:p.Asp1009Tyr
ENST00000359874.7:c.3115G>T	ENSP00000352936.3:p.Asp1039Tyr
NM_001127698.1:c.3115G>T	NP_001121170.1:p.Asp1039Tyr
NM_006846.3:c.3025G>T , LRG_110t1:c.3025G>T	NP_006837.2:p.Asp1009Tyr
XM_011537550.1:c.3058G>T	XP_011535852.1:p.Asp1020Tyr
XM_011537551.1:c.3031G>T	XP_011535853.1:p.Asp1011Tyr
XM_011537551.2:c.3031G>T	XP_011535853.1:p.Asp1011Tyr
NM_001127698.2:c.3115G>T	NP_001121170.1:p.Asp1039Tyr
NM_006846.4:c.3025G>T MANE Select	NP_006837.2:p.Asp1009Tyr