Canonical Allele Identifier: CA37410076

Gene: USH2A

Linked Data

• dbSNP Id: rs145803438
• gnomAD v4: 1-215671072-G-A
• MyVariant Identifiers: chr1:g.215844414G>A (hg19) ; chr1:g.215671072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671072G>A , CM000663.2:g.215671072G>A	GRCh38
NC_000001.10:g.215844414G>A , CM000663.1:g.215844414G>A	GRCh37
NC_000001.9:g.213911037G>A	NCBI36
NG_009497.1:g.757325C>T
NG_009497.2:g.757377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14033C>T MANE Select	ENSP00000305941.3:p.Ala4678Val
ENST00000674083.1:c.14033C>T	ENSP00000501296.1:p.Ala4678Val
ENST00000307340.7:c.14033C>T	ENSP00000305941.3:p.Ala4678Val
NM_206933.2:c.14033C>T	NP_996816.2:p.Ala4678Val
NM_206933.3:c.14033C>T	NP_996816.2:p.Ala4678Val
NM_206933.4:c.14033C>T MANE Select	NP_996816.3:p.Ala4678Val