Canonical Allele Identifier: CA12338343
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs1999805

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151747229G>A , CM000668.2:g.151747229G>A GRCh38
NC_000006.11:g.152068364G>A , CM000668.1:g.152068364G>A GRCh37
NC_000006.10:g.152110057G>A NCBI36
NG_008493.1:g.61734G>A
NG_008493.2:g.95539G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000404742.5:c.-71+45224G>A ENSP00000385373.1:p.=
ENST00000440973.5:c.-71+45224G>A ENSP00000405330.1:p.=
ENST00000473497.5:n.204+45224G>A
NM_001122742.1:c.-71+45224G>A NP_001116214.1:p.=
XM_006715374.2:c.-71+45224G>A XP_006715437.1:p.=
XM_011535543.1:c.-184-10251G>A XP_011533845.1:p.=
XM_011535547.1:c.-71+45224G>A XP_011533849.1:p.=
XM_006715374.3:c.-71+45224G>A XP_006715437.1:p.=
XM_011535543.2:c.-184-10251G>A XP_011533845.1:p.=
XM_011535547.2:c.-71+45224G>A XP_011533849.1:p.=
XM_017010376.1:c.-71+45224G>A XP_016865865.1:p.=
XM_017010377.1:c.-71+45224G>A XP_016865866.1:p.=
XM_017010378.1:c.-71+45224G>A XP_016865867.1:p.=
XM_017010379.1:c.-71+45224G>A XP_016865868.1:p.=
XM_017010380.1:c.-70-60614G>A XP_016865869.1:p.=
XR_001743223.2:n.300+45224G>A
XR_002956266.1:n.300+45224G>A
NM_001122742.2:c.-71+45224G>A NP_001116214.1:p.=
NM_001385568.1:c.-71+45224G>A NP_001372497.1:p.=
NM_001385570.1:c.-71+45224G>A NP_001372499.1:p.=