Canonical Allele Identifier: CA2404045750
Gene: PVALB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36813216G= , CM000684.2:g.36813216G= GRCh38
NC_000022.10:g.37209260G= , CM000684.1:g.37209260G= GRCh37
NC_000022.9:g.35539206G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.304+430C= MANE Select ENSP00000400247.2:n.304+430C=
ENST00000216200.9:c.304+430C= ENSP00000216200.5:n.304+430C=
ENST00000404171.1:c.208+430C= ENSP00000386089.1:n.208+430C=
ENST00000406910.6:c.300+430C=
ENST00000417718.6:c.304+430C= ENSP00000400247.2:n.304+430C=
NM_001315532.1:c.304+430C= NP_001302461.1:n.304+430C=
NM_002854.2:c.304+430C= NP_002845.1:n.304+430C=
XM_011530288.1:c.304+430C= XP_011528590.1:n.304+430C=
NM_001315532.2:c.304+430C= MANE Select NP_001302461.1:n.304+430C=
NM_002854.3:c.304+430C= NP_002845.1:n.304+430C=