Canonical Allele Identifier: CA1875384101
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117796818C= , CM000671.2:g.117796818C= GRCh38
NC_000009.11:g.120559096C= , CM000671.1:g.120559096C= GRCh37
NC_000009.10:g.119598917C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.94-51247C= ENSP00000496197.1:n.94-51247C=
ENST00000697624.1:n.201-51247C=
ENST00000697636.1:c.94-51247C= ENSP00000513366.1:n.94-51247C=
ENST00000697637.1:c.94-51247C= ENSP00000513367.1:n.94-51247C=
ENST00000697664.1:c.*86+29568C= ENSP00000513389.1:n.*86+29568C=
ENST00000697665.1:c.94-51247C= ENSP00000513390.1:n.94-51247C=
ENST00000697666.1:c.141-51247C= ENSP00000513391.1:n.141-51247C=
ENST00000642985.1:c.261-51247C= ENSP00000493686.1:n.261-51247C=
ENST00000646089.1:c.94-51247C= ENSP00000496197.1:n.94-51247C=
ENST00000665764.1:c.94-51247C= ENSP00000499745.1:n.94-51247C=
XR_930289.1:n.1628-6163C=
XR_001746915.1:n.2244-6163C=