Canonical Allele Identifier: CA702413237
Gene: GPC6 HGNC NCBI

Linked Data

dbSNP Id: rs1287889472
gnomAD v3: 13-93286404-G-C
gnomAD v4: 13-93286404-G-C
MyVariant Identifiers: chr13:g.93938657G>C (hg19) chr13:g.93286404G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.93286404G>C , CM000675.2:g.93286404G>C GRCh38
NC_000013.10:g.93938657G>C , CM000675.1:g.93938657G>C GRCh37
NC_000013.9:g.92736658G>C NCBI36
NG_011880.1:g.64580G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377047.9:c.160+58788G>C MANE Select ENSP00000366246.3:n.160+58788G>C
ENST00000377047.8:c.160+58788G>C ENSP00000366246.3:n.160+58788G>C
NM_005708.3:c.160+58788G>C NP_005699.1:n.160+58788G>C
NM_005708.4:c.160+58788G>C NP_005699.1:n.160+58788G>C
XM_017020299.2:c.-51+20447G>C XP_016875788.1:n.-51+20447G>C
NM_005708.5:c.160+58788G>C MANE Select NP_005699.1:n.160+58788G>C
Search 100 bp 5'
Search 100 bp 3'