Canonical Allele Identifier: CA14240235

Gene:

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11435037C>A , CM000678.2:g.11435037C>A	GRCh38
NC_000016.9:g.11528893C>A , CM000678.1:g.11528893C>A	GRCh37
NC_000016.8:g.11436394C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696174.1:c.5405+625G>T	ENSP00000512464.1:n.5405+625G>T
ENST00000598234.6:c.5405+625G>T	ENSP00000470478.3:n.5405+625G>T
ENST00000598234.5:c.5300+625G>T	ENSP00000470478.2:n.5300+625G>T
XM_006720997.2:c.5300+625G>T	XP_006721060.2:n.5300+625G>T
XM_017023929.1:c.5300+625G>T	XP_016879418.1:n.5300+625G>T
XM_017023930.1:c.5207+625G>T	XP_016879419.1:n.5207+625G>T
XM_017023931.1:c.5300+625G>T	XP_016879420.1:n.5300+625G>T
XM_017023932.1:c.5300+625G>T	XP_016879421.1:n.5300+625G>T
XM_017023933.1:c.5300+625G>T	XP_016879422.1:n.5300+625G>T
XM_017023934.1:c.5300+625G>T	XP_016879423.1:n.5300+625G>T
XM_017023935.1:c.5300+625G>T	XP_016879424.1:n.5300+625G>T
XM_017023936.1:c.4949+625G>T	XP_016879425.1:n.4949+625G>T
XM_017023937.1:c.5300+625G>T	XP_016879426.1:n.5300+625G>T
XM_017023938.1:c.5300+625G>T	XP_016879427.1:n.5300+625G>T
XM_017023939.1:c.5300+625G>T	XP_016879428.1:n.5300+625G>T
XM_017023940.1:c.4205+625G>T	XP_016879429.1:n.4205+625G>T
XM_017023941.1:c.3410+625G>T	XP_016879430.1:n.3410+625G>T
XM_017023942.1:c.5300+625G>T	XP_016879431.1:n.5300+625G>T
XM_017023943.1:c.2375+625G>T	XP_016879432.1:n.2375+625G>T
XM_017023944.1:c.5300+625G>T	XP_016879433.1:n.5300+625G>T
XM_017023945.1:c.5300+625G>T	XP_016879434.1:n.5300+625G>T
XM_017023946.1:c.2189+625G>T	XP_016879435.1:n.2189+625G>T
XM_017023947.2:c.1331+625G>T	XP_016879436.1:n.1331+625G>T
XM_017023948.1:c.5244+625G>T	XP_016879437.1:n.5244+625G>T
XM_017023949.1:c.5083-3808G>T	XP_016879438.1:n.5083-3808G>T
XR_001752082.1:n.5690+625G>T
XR_001752083.1:n.5690+625G>T
NM_001370704.1:c.5405+625G>T	NP_001357633.1:n.5405+625G>T
NM_001395505.1:c.5405+625G>T	NP_001382434.1:n.5405+625G>T