LDH info

Canonical Allele Identifier: CA14749809
Gene: SNAP25 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 542731
ClinVar RCV Id: RCV000653213
dbSNP Id: rs363050

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10253609G>A , CM000682.2:g.10253609G>A GRCh38
NC_000020.10:g.10234257G>A , CM000682.1:g.10234257G>A GRCh37
NC_000020.9:g.10182257G>A NCBI36
NG_029626.1:g.39781G>A

Transcript Alleles

HGVS Amino-acid change
NM_003081.3:c.-63-21820G>A VV NP_003072.2:p.=
NM_130811.2:c.-63-21820G>A VV NP_570824.1:p.=
XM_005260808.3:c.-63-21820G>A XP_005260865.1:p.=
XM_005260810.3:c.-63-21820G>A XP_005260867.1:p.=
NM_001322902.1:c.-63-21820G>A VV NP_001309831.1:p.=
NM_001322903.1:c.-64+19272G>A VV NP_001309832.1:p.=
NM_001322904.1:c.-63-21820G>A VV NP_001309833.1:p.=
NM_001322905.1:c.-64+9575G>A VV NP_001309834.1:p.=
NM_001322906.1:c.-64+15583G>A VV NP_001309835.1:p.=
NM_001322907.1:c.-63-21820G>A VV NP_001309836.1:p.=
NM_001322908.1:c.-64+8716G>A VV NP_001309837.1:p.=
NM_001322909.1:c.-108-5748G>A VV NP_001309838.1:p.=
NM_001322910.1:c.-63-21820G>A VV NP_001309839.1:p.=
NM_003081.4:c.-63-21820G>A VV NP_003072.2:p.=
NM_130811.3:c.-63-21820G>A VV NP_570824.1:p.=
XM_005260808.5:c.-63-21820G>A XP_005260865.1:p.=
XM_017028021.2:c.-64+9575G>A XP_016883510.1:p.=
XM_017028022.1:c.-64+15583G>A XP_016883511.1:p.=
NM_001322902.2:c.-63-21820G>A VV NP_001309831.1:p.=
NM_001322903.2:c.-64+19272G>A VV NP_001309832.1:p.=
NM_001322904.2:c.-63-21820G>A VV NP_001309833.1:p.=
NM_001322905.2:c.-64+9575G>A VV NP_001309834.1:p.=
NM_001322906.2:c.-64+15583G>A VV NP_001309835.1:p.=
NM_001322907.2:c.-63-21820G>A VV NP_001309836.1:p.=
NM_001322908.2:c.-64+8716G>A VV NP_001309837.1:p.=
NM_001322909.2:c.-108-5748G>A VV NP_001309838.1:p.=
NM_001322910.2:c.-63-21820G>A VV NP_001309839.1:p.=
NM_003081.5:c.-63-21820G>A VV NP_003072.2:p.=
NM_130811.4:c.-63-21820G>A VV MANE Preferred NP_570824.1:p.=
ENST00000254976.6:c.-63-21820G>A ENSP00000254976.2:p.=
ENST00000304886.6:c.-63-21820G>A ENSP00000307341.2:p.=
ENST00000430336.1:c.-63-21820G>A ENSP00000400720.1:p.=