Canonical Allele Identifier: CA415269974

Gene: GPR50

Linked Data

• dbSNP Id: rs2048713643
• gnomAD v4: X-151181307-C-T
• MyVariant Identifiers: chrX:g.150349779C>T (hg19) ; chrX:g.151181307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.151181307C>T , CM000685.2:g.151181307C>T	GRCh38
NC_000023.10:g.150349779C>T , CM000685.1:g.150349779C>T	GRCh37
NC_000023.9:g.150100437C>T	NCBI36
NG_016405.1:g.9724C>T
NG_016405.2:g.9724C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218316.4:c.1724C>T MANE Select	ENSP00000218316.3:p.Ala575Val
ENST00000218316.3:c.1724C>T	ENSP00000218316.3:p.Ala575Val
ENST00000617907.1:c.1718C>T	ENSP00000484496.1:p.Ala573Val
NM_004224.3:c.1724C>T MANE Select	NP_004215.2:p.Ala575Val
XM_011531216.1:c.983C>T	XP_011529518.1:p.Ala328Val
XM_011531216.2:c.983C>T	XP_011529518.1:p.Ala328Val