Canonical Allele Identifier: CA415270087
Gene: GPR50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.151181361T>C , CM000685.2:g.151181361T>C GRCh38
NC_000023.10:g.150349833T>C , CM000685.1:g.150349833T>C GRCh37
NC_000023.9:g.150100491T>C NCBI36
NG_016405.1:g.9778T>C
NG_016405.2:g.9778T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218316.4:c.1778T>C MANE Select ENSP00000218316.3:p.Val593Ala
ENST00000218316.3:c.1778T>C ENSP00000218316.3:p.Val593Ala
ENST00000617907.1:c.1772T>C ENSP00000484496.1:p.Val591Ala
NM_004224.3:c.1778T>C MANE Select NP_004215.2:p.Val593Ala
XM_011531216.1:c.1037T>C XP_011529518.1:p.Val346Ala
XM_011531216.2:c.1037T>C XP_011529518.1:p.Val346Ala