Canonical Allele Identifier: CA1095923060
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs2051139081
gnomAD v3: 6-152111770-G-A
gnomAD v4: 6-152111770-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152111770G>A , CM000668.2:g.152111770G>A GRCh38
NC_000006.11:g.152432905G>A , CM000668.1:g.152432905G>A GRCh37
NC_000006.10:g.152474598G>A NCBI36
NG_008493.2:g.460080G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000641399.1:n.1071-6493G>A
ENST00000427531.6:c.851-13496G>A ENSP00000394721.2:n.851-13496G>A
NM_001328100.1:c.851-13496G>A NP_001315029.1:n.851-13496G>A
NM_001328100.2:c.851-13496G>A NP_001315029.1:n.851-13496G>A
Search 100 bp 5'
Search 100 bp 3'