Canonical Allele Identifier: CA412587048
Gene: PTCHD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393544A>G , CM000685.2:g.23393544A>G GRCh38
NC_000023.10:g.23411661A>G , CM000685.1:g.23411661A>G GRCh37
NC_000023.9:g.23321582A>G NCBI36
NG_021300.1:g.63677A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.2026A>G MANE Select ENSP00000368666.4:p.Lys676Glu
ENST00000379361.4:c.2026A>G ENSP00000368666.4:p.Lys676Glu
NM_173495.2:c.2026A>G NP_775766.2:p.Lys676Glu
XM_011545449.1:c.2026A>G XP_011543751.1:p.Lys676Glu
XM_011545449.3:c.2026A>G XP_011543751.1:p.Lys676Glu
NM_173495.3:c.2026A>G MANE Select NP_775766.2:p.Lys676Glu