Canonical Allele Identifier: CA1206216894

Linked Data

dbSNP Id: rs1648915528

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731686G>A , CM000663.2:g.169731686G>A GRCh38
NC_000001.10:g.169700827G>A , CM000663.1:g.169700827G>A GRCh37
NC_000001.9:g.167967451G>A NCBI36
NG_012124.1:g.7394C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.529+149C>T (SELE) MANE Select ENSP00000331736.7:n.529+149C>T
ENST00000333360.11:c.529+149C>T (SELE) ENSP00000331736.7:n.529+149C>T
ENST00000367774.1:c.529+149C>T (SELE) ENSP00000356748.1:n.529+149C>T
ENST00000367775.5:c.529+149C>T (SELE) ENSP00000356749.1:n.529+149C>T
ENST00000367776.5:c.529+149C>T (SELE) ENSP00000356750.1:n.529+149C>T
ENST00000367777.5:c.529+149C>T (SELE) ENSP00000356751.1:n.529+149C>T
ENST00000461085.1:n.361C>T (SELE)
ENST00000498289.5:n.851+47754G>A (FIRRM)
NM_000450.2:c.529+149C>T (SELE) MANE Select NP_000441.2:n.529+149C>T