Canonical Allele Identifier: CA2671644289
Gene:

Linked Data

gnomAD v4: 4-105542460-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542460G>T , CM000666.2:g.105542460G>T GRCh38
NC_000004.11:g.106463617G>T , CM000666.1:g.106463617G>T GRCh37
NC_000004.10:g.106683066G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.545C>A
XR_939039.1:n.705C>A
XR_939040.1:n.296-984C>A
XR_001741410.1:n.560C>A
XR_001741411.1:n.1036C>A
XR_001741412.1:n.449+111C>A
XR_001741413.1:n.560C>A
XR_001741414.1:n.449+111C>A
XR_939038.2:n.560C>A
XR_939040.2:n.311-984C>A
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