Canonical Allele Identifier: CA2541578901

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89655763T>C , CM000666.2:g.89655763T>C	GRCh38
NC_000004.11:g.90576914T>C , CM000666.1:g.90576914T>C	GRCh37
NC_000004.10:g.90795937T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.434+27846T>C
XR_938987.1:n.688+27846T>C
XR_938988.1:n.554+27846T>C
XR_938990.1:n.299-35522T>C
XR_938991.1:n.434+27846T>C
XR_938994.1:n.779+27846T>C
XR_938995.1:n.613+27846T>C
XR_938986.2:n.459+27846T>C
XR_938987.2:n.748+27846T>C