Canonical Allele Identifier: CA128947226

Gene: SPINK5

Linked Data

• dbSNP Id: rs377606671
• gnomAD v3: 5-148131345-T-C
• gnomAD v4: 5-148131345-T-C
• MyVariant Identifiers: chr5:g.147510908T>C (hg19) ; chr5:g.148131345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131345T>C , CM000667.2:g.148131345T>C	GRCh38
NC_000005.9:g.147510908T>C , CM000667.1:g.147510908T>C	GRCh37
NC_000005.8:g.147491101T>C	NCBI36
NG_009633.1:g.72374T>C , LRG_110:g.72374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.3051T>C MANE Select	ENSP00000256084.7:p.Asp1017=
ENST00000256084.7:c.3051T>C	ENSP00000256084.7:p.Asp1017=
ENST00000359874.7:c.3141T>C	ENSP00000352936.3:p.Asp1047=
NM_001127698.1:c.3141T>C	NP_001121170.1:p.Asp1047=
NM_006846.3:c.3051T>C , LRG_110t1:c.3051T>C	NP_006837.2:p.Asp1017=
XM_011537550.1:c.3084T>C	XP_011535852.1:p.Asp1028=
XM_011537551.1:c.3057T>C	XP_011535853.1:p.Asp1019=
XM_011537551.2:c.3057T>C	XP_011535853.1:p.Asp1019=
NM_001127698.2:c.3141T>C	NP_001121170.1:p.Asp1047=
NM_006846.4:c.3051T>C MANE Select	NP_006837.2:p.Asp1017=