Canonical Allele Identifier: CA338168029
Gene: RERE HGNC NCBI

Linked Data

gnomAD v4: 1-8355440-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8355440G>T , CM000663.2:g.8355440G>T GRCh38
NC_000001.10:g.8415500G>T , CM000663.1:g.8415500G>T GRCh37
NC_000001.9:g.8338087G>T NCBI36
NG_047035.1:g.467252C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000465125.2:c.2984C>A ENSP00000515651.1:p.Pro995Gln
ENST00000400908.7:c.4646C>A MANE Select ENSP00000383700.2:p.Pro1549Gln
ENST00000337907.7:c.4646C>A ENSP00000338629.3:p.Pro1549Gln
ENST00000377464.5:c.3842C>A ENSP00000366684.1:p.Pro1281Gln
ENST00000400907.6:c.1700C>A ENSP00000383699.2:p.Pro567Gln
ENST00000400908.6:c.4646C>A ENSP00000383700.2:p.Pro1549Gln
ENST00000476556.5:c.2984C>A ENSP00000422246.1:p.Pro995Gln
NM_001042681.1:c.4646C>A NP_001036146.1:p.Pro1549Gln
NM_001042682.1:c.2984C>A NP_001036147.1:p.Pro995Gln
NM_012102.3:c.4646C>A NP_036234.3:p.Pro1549Gln
XM_005263464.1:c.4646C>A XP_005263521.1:p.Pro1549Gln
XM_005263466.1:c.3842C>A XP_005263523.1:p.Pro1281Gln
XM_006710653.1:c.4646C>A XP_006710716.1:p.Pro1549Gln
XM_011541510.1:c.4520C>A XP_011539812.1:p.Pro1507Gln
XM_005263464.2:c.4646C>A XP_005263521.1:p.Pro1549Gln
XM_011541510.2:c.4520C>A XP_011539812.1:p.Pro1507Gln
XM_017001358.1:c.4646C>A XP_016856847.1:p.Pro1549Gln
XM_017001359.1:c.4646C>A XP_016856848.1:p.Pro1549Gln
NM_001042681.2:c.4646C>A MANE Select NP_001036146.1:p.Pro1549Gln
NM_001042682.2:c.2984C>A NP_001036147.1:p.Pro995Gln
NM_012102.4:c.4646C>A NP_036234.3:p.Pro1549Gln