Canonical Allele Identifier: CA994367784

Gene:

Linked Data

• gnomAD v3: 19-20218267-G-T
• gnomAD v4: 19-20218267-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218267G>T , CM000681.2:g.20218267G>T	GRCh38
NC_000019.9:g.20329076G>T , CM000681.1:g.20329076G>T	GRCh37
NC_000019.8:g.20190076G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_936388.1:n.619-951C>A
XR_936389.1:n.502-951C>A
XR_936390.1:n.511-951C>A
XR_936391.1:n.514-951C>A
XR_936392.1:n.514-951C>A
XR_936394.1:n.41-467G>T
XR_001754063.2:n.1506-951C>A
XR_001754064.2:n.138-951C>A
XR_001754066.1:n.3912-951C>A
XR_001754067.1:n.3912-951C>A
XR_001754068.1:n.3912-951C>A
XR_936394.2:n.41-467G>T
XR_936406.2:n.1411-951C>A