Canonical Allele Identifier: CA2649046673

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731822G>T , CM000663.2:g.169731822G>T GRCh38
NC_000001.10:g.169700963G>T , CM000663.1:g.169700963G>T GRCh37
NC_000001.9:g.167967587G>T NCBI36
NG_012124.1:g.7258C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.529+13C>A (SELE) MANE Select ENSP00000331736.7:n.529+13C>A
ENST00000333360.11:c.529+13C>A (SELE) ENSP00000331736.7:n.529+13C>A
ENST00000367774.1:c.529+13C>A (SELE) ENSP00000356748.1:n.529+13C>A
ENST00000367775.5:c.529+13C>A (SELE) ENSP00000356749.1:n.529+13C>A
ENST00000367776.5:c.529+13C>A (SELE) ENSP00000356750.1:n.529+13C>A
ENST00000367777.5:c.529+13C>A (SELE) ENSP00000356751.1:n.529+13C>A
ENST00000461085.1:n.225C>A (SELE)
ENST00000498289.5:n.851+47890G>T (FIRRM)
NM_000450.2:c.529+13C>A (SELE) MANE Select NP_000441.2:n.529+13C>A