Canonical Allele Identifier: CA128947143

Gene: SPINK5

Linked Data

• dbSNP Id: rs578158026
• gnomAD v4: 5-148131260-A-C
• MyVariant Identifiers: chr5:g.147510823A>C (hg19) ; chr5:g.148131260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131260A>C , CM000667.2:g.148131260A>C	GRCh38
NC_000005.9:g.147510823A>C , CM000667.1:g.147510823A>C	GRCh37
NC_000005.8:g.147491016A>C	NCBI36
NG_009633.1:g.72289A>C , LRG_110:g.72289A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2966A>C MANE Select	ENSP00000256084.7:p.Asp989Ala
ENST00000256084.7:c.2966A>C	ENSP00000256084.7:p.Asp989Ala
ENST00000359874.7:c.3056A>C	ENSP00000352936.3:p.Asp1019Ala
NM_001127698.1:c.3056A>C	NP_001121170.1:p.Asp1019Ala
NM_006846.3:c.2966A>C , LRG_110t1:c.2966A>C	NP_006837.2:p.Asp989Ala
XM_011537550.1:c.2999A>C	XP_011535852.1:p.Asp1000Ala
XM_011537551.1:c.2972A>C	XP_011535853.1:p.Asp991Ala
XM_011537551.2:c.2972A>C	XP_011535853.1:p.Asp991Ala
NM_001127698.2:c.3056A>C	NP_001121170.1:p.Asp1019Ala
NM_006846.4:c.2966A>C MANE Select	NP_006837.2:p.Asp989Ala