Canonical Allele Identifier: CA412586953
Gene: PTCHD1 HGNC NCBI

Linked Data

gnomAD v4: X-23393499-C-T
MyVariant Identifiers: chrX:g.23411616C>T (hg19) chrX:g.23393499C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393499C>T , CM000685.2:g.23393499C>T GRCh38
NC_000023.10:g.23411616C>T , CM000685.1:g.23411616C>T GRCh37
NC_000023.9:g.23321537C>T NCBI36
NG_021300.1:g.63632C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.1981C>T MANE Select ENSP00000368666.4:p.Leu661Phe
ENST00000379361.4:c.1981C>T ENSP00000368666.4:p.Leu661Phe
NM_173495.2:c.1981C>T NP_775766.2:p.Leu661Phe
XM_011545449.1:c.1981C>T XP_011543751.1:p.Leu661Phe
XM_011545449.3:c.1981C>T XP_011543751.1:p.Leu661Phe
NM_173495.3:c.1981C>T MANE Select NP_775766.2:p.Leu661Phe
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