Canonical Allele Identifier: CA361636297
Gene: SPINK5 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148100517G>C , CM000667.2:g.148100517G>C GRCh38
NC_000005.9:g.147480080G>C , CM000667.1:g.147480080G>C GRCh37
NC_000005.8:g.147460273G>C NCBI36
NG_009633.1:g.41546G>C , LRG_110:g.41546G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.765G>C
ENST00000256084.8:c.1156G>C MANE Select ENSP00000256084.7:p.Asp386His
ENST00000256084.7:c.1156G>C ENSP00000256084.7:p.Asp386His
ENST00000359874.7:c.1156G>C ENSP00000352936.3:p.Asp386His
ENST00000398454.5:c.1156G>C ENSP00000381472.1:p.Asp386His
ENST00000476608.1:n.672G>C
ENST00000507988.5:n.1320G>C
ENST00000508733.5:c.1099G>C ENSP00000421519.1:p.Asp367His
NM_001127698.1:c.1156G>C NP_001121170.1:p.Asp386His
NM_001127699.1:c.1156G>C NP_001121171.1:p.Asp386His
NM_006846.3:c.1156G>C , LRG_110t1:c.1156G>C NP_006837.2:p.Asp386His
XM_011537550.1:c.1099G>C XP_011535852.1:p.Asp367His
XM_011537551.1:c.1072G>C XP_011535853.1:p.Asp358His
XM_011537551.2:c.1072G>C XP_011535853.1:p.Asp358His
NM_001127698.2:c.1156G>C NP_001121170.1:p.Asp386His
NM_001127699.2:c.1156G>C NP_001121171.1:p.Asp386His
NM_006846.4:c.1156G>C MANE Select NP_006837.2:p.Asp386His