Canonical Allele Identifier: CA10540483
Gene: GPR50 HGNC NCBI

Linked Data

dbSNP Id: rs770991631
ExAC: X:150349823 C / T
gnomAD v2: X-150349823-C-T
gnomAD v4: X-151181351-C-T
MyVariant Identifiers: chrX:g.150349823C>T (hg19) chrX:g.151181351C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.151181351C>T , CM000685.2:g.151181351C>T GRCh38
NC_000023.10:g.150349823C>T , CM000685.1:g.150349823C>T GRCh37
NC_000023.9:g.150100481C>T NCBI36
NG_016405.1:g.9768C>T
NG_016405.2:g.9768C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218316.4:c.1768C>T MANE Select ENSP00000218316.3:p.Pro590Ser
ENST00000218316.3:c.1768C>T ENSP00000218316.3:p.Pro590Ser
ENST00000617907.1:c.1762C>T ENSP00000484496.1:p.Pro588Ser
NM_004224.3:c.1768C>T MANE Select NP_004215.2:p.Pro590Ser
XM_011531216.1:c.1027C>T XP_011529518.1:p.Pro343Ser
XM_011531216.2:c.1027C>T XP_011529518.1:p.Pro343Ser
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