Canonical Allele Identifier: CA3496270
Community Standard Title: NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=)
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148133884G>A , CM000667.2:g.148133884G>A GRCh38
NC_000005.9:g.147513447G>A , CM000667.1:g.147513447G>A GRCh37
NC_000005.8:g.147493640G>A NCBI36
NG_009633.1:g.74913G>A , LRG_110:g.74913G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006846.4:c.3183G>A MANE Select NP_006837.2:p.Pro1061=
ENST00000256084.8:c.3183G>A MANE Select ENSP00000256084.7:p.Pro1061=
NM_001127698.1:c.3273G>A NP_001121170.1:p.Pro1091=
NM_001127698.2:c.3273G>A NP_001121170.1:p.Pro1091=
NM_006846.3:c.3183G>A , LRG_110t1:c.3183G>A NP_006837.2:p.Pro1061=
ENST00000256084.7:c.3183G>A ENSP00000256084.7:p.Pro1061=
ENST00000359874.7:c.3273G>A ENSP00000352936.3:p.Pro1091=
XM_011537550.1:c.3216G>A XP_011535852.1:p.Pro1072=
XM_011537551.1:c.3189G>A XP_011535853.1:p.Pro1063=
XM_011537551.2:c.3189G>A XP_011535853.1:p.Pro1063=