Canonical Allele Identifier: CA412586997
Gene: PTCHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1275410389

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393518C>G , CM000685.2:g.23393518C>G GRCh38
NC_000023.10:g.23411635C>G , CM000685.1:g.23411635C>G GRCh37
NC_000023.9:g.23321556C>G NCBI36
NG_021300.1:g.63651C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.2000C>G MANE Select ENSP00000368666.4:p.Thr667Ser
ENST00000379361.4:c.2000C>G ENSP00000368666.4:p.Thr667Ser
NM_173495.2:c.2000C>G NP_775766.2:p.Thr667Ser
XM_011545449.1:c.2000C>G XP_011543751.1:p.Thr667Ser
XM_011545449.3:c.2000C>G XP_011543751.1:p.Thr667Ser
NM_173495.3:c.2000C>G MANE Select NP_775766.2:p.Thr667Ser