Canonical Allele Identifier: CA412586959
Gene: PTCHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393503A>C , CM000685.2:g.23393503A>C GRCh38
NC_000023.10:g.23411620A>C , CM000685.1:g.23411620A>C GRCh37
NC_000023.9:g.23321541A>C NCBI36
NG_021300.1:g.63636A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.1985A>C MANE Select ENSP00000368666.4:p.Tyr662Ser
ENST00000379361.4:c.1985A>C ENSP00000368666.4:p.Tyr662Ser
NM_173495.2:c.1985A>C NP_775766.2:p.Tyr662Ser
XM_011545449.1:c.1985A>C XP_011543751.1:p.Tyr662Ser
XM_011545449.3:c.1985A>C XP_011543751.1:p.Tyr662Ser
NM_173495.3:c.1985A>C MANE Select NP_775766.2:p.Tyr662Ser