Canonical Allele Identifier: CA37410157

Gene: USH2A

Linked Data

• dbSNP Id: rs778985004
• gnomAD v4: 1-215671189-T-A
• MyVariant Identifiers: chr1:g.215844531T>A (hg19) ; chr1:g.215671189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671189T>A , CM000663.2:g.215671189T>A	GRCh38
NC_000001.10:g.215844531T>A , CM000663.1:g.215844531T>A	GRCh37
NC_000001.9:g.213911154T>A	NCBI36
NG_009497.1:g.757208A>T
NG_009497.2:g.757260A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13916A>T MANE Select	ENSP00000305941.3:p.His4639Leu
ENST00000674083.1:c.13916A>T	ENSP00000501296.1:p.His4639Leu
ENST00000307340.7:c.13916A>T	ENSP00000305941.3:p.His4639Leu
NM_206933.2:c.13916A>T	NP_996816.2:p.His4639Leu
NM_206933.3:c.13916A>T	NP_996816.2:p.His4639Leu
NM_206933.4:c.13916A>T MANE Select	NP_996816.3:p.His4639Leu