Canonical Allele Identifier: CA446938260
Gene: SPINK5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.147510824T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131261T>C , CM000667.2:g.148131261T>C GRCh38
NC_000005.9:g.147510824T>C , CM000667.1:g.147510824T>C GRCh37
NC_000005.8:g.147491017T>C NCBI36
NG_009633.1:g.72290T>C , LRG_110:g.72290T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2967T>C MANE Select ENSP00000256084.7:p.Asp989=
ENST00000256084.7:c.2967T>C ENSP00000256084.7:p.Asp989=
ENST00000359874.7:c.3057T>C ENSP00000352936.3:p.Asp1019=
NM_001127698.1:c.3057T>C NP_001121170.1:p.Asp1019=
NM_006846.3:c.2967T>C , LRG_110t1:c.2967T>C NP_006837.2:p.Asp989=
XM_011537550.1:c.3000T>C XP_011535852.1:p.Asp1000=
XM_011537551.1:c.2973T>C XP_011535853.1:p.Asp991=
XM_011537551.2:c.2973T>C XP_011535853.1:p.Asp991=
NM_001127698.2:c.3057T>C NP_001121170.1:p.Asp1019=
NM_006846.4:c.2967T>C MANE Select NP_006837.2:p.Asp989=