Canonical Allele Identifier: CA13609156
Community Standard Title: NM_198827.5(ADGRD1):c.1671+6983C>A
Gene: ADGRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131091646C>A , CM000674.2:g.131091646C>A GRCh38
NC_000012.11:g.131576191C>A , CM000674.1:g.131576191C>A GRCh37
NC_000012.10:g.130142144C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_198827.5:c.1671+6983C>A MANE Select NP_942122.2:n.1671+6983C>A
ENST00000261654.10:c.1671+6983C>A MANE Select ENSP00000261654.5:n.1671+6983C>A
NM_001330497.1:c.1767+6983C>A NP_001317426.1:n.1767+6983C>A
NM_001330497.2:c.1767+6983C>A NP_001317426.1:n.1767+6983C>A
NM_198827.3:c.1671+6983C>A NP_942122.2:n.1671+6983C>A
NM_198827.4:c.1671+6983C>A NP_942122.2:n.1671+6983C>A
ENST00000261654.9:c.1671+6983C>A ENSP00000261654.5:n.1671+6983C>A
ENST00000335486.10:c.21+6983C>A ENSP00000334127.7:n.21+6983C>A
ENST00000376682.8:n.984+6983C>A
ENST00000446583.6:c.21+6983C>A ENSP00000482235.1:n.21+6983C>A
ENST00000535015.5:c.1767+6983C>A ENSP00000444425.1:n.1767+6983C>A
ENST00000543617.2:c.228+6983C>A ENSP00000438021.1:n.228+6983C>A
XM_005253566.1:c.1491+6983C>A XP_005253623.1:n.1491+6983C>A
XM_005253566.2:c.1491+6983C>A XP_005253623.1:n.1491+6983C>A
XM_011538203.1:c.1767+6983C>A XP_011536505.1:n.1767+6983C>A
XM_011538204.1:c.1767+6983C>A XP_011536506.1:n.1767+6983C>A
XM_011538204.2:c.1767+6983C>A XP_011536506.1:n.1767+6983C>A
XM_011538205.1:c.1587+6983C>A XP_011536507.1:n.1587+6983C>A
XM_011538205.2:c.1587+6983C>A XP_011536507.1:n.1587+6983C>A
XM_011538206.1:c.1767+6983C>A XP_011536508.1:n.1767+6983C>A
XM_011538206.2:c.1767+6983C>A XP_011536508.1:n.1767+6983C>A
XM_011538207.1:c.1767+6983C>A XP_011536509.1:n.1767+6983C>A
XM_011538207.2:c.1767+6983C>A XP_011536509.1:n.1767+6983C>A
XM_011538208.1:c.1332+6983C>A XP_011536510.1:n.1332+6983C>A
XM_011538208.2:c.1332+6983C>A XP_011536510.1:n.1332+6983C>A
XM_011538209.1:c.1767+6983C>A XP_011536511.1:n.1767+6983C>A
XM_011538209.2:c.1767+6983C>A XP_011536511.1:n.1767+6983C>A
XM_011538211.1:c.759+6983C>A XP_011536513.1:n.759+6983C>A
XM_011538211.2:c.759+6983C>A XP_011536513.1:n.759+6983C>A
XM_011538212.1:c.537+6983C>A XP_011536514.1:n.537+6983C>A
XM_011538212.2:c.537+6983C>A XP_011536514.1:n.537+6983C>A