Canonical Allele Identifier: CA12799757

Gene:

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.137893053A>G , CM000670.2:g.137893053A>G	GRCh38
NC_000008.10:g.138905296A>G , CM000670.1:g.138905296A>G	GRCh37
NC_000008.9:g.138974478A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928696.1:n.985+46673T>C
XR_928697.1:n.574-55168T>C
NM_001354876.1:c.250-55168T>C	NP_001341805.1:n.250-55168T>C
XM_024447147.1:c.334-55168T>C	XP_024302915.1:n.334-55168T>C
XM_024447148.1:c.334-55168T>C	XP_024302916.1:n.334-55168T>C
XM_024447149.1:c.250-55168T>C	XP_024302917.1:n.250-55168T>C
XM_024447150.1:c.136-55168T>C	XP_024302918.1:n.136-55168T>C
XM_024447151.1:c.334-55168T>C	XP_024302919.1:n.334-55168T>C
NR_161374.1:n.574-55168T>C