Canonical Allele Identifier: CA412586904

Gene: PTCHD1

Linked Data

• MyVariant Identifiers: chrX:g.23411605A>T (hg19) ; chrX:g.23393488A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393488A>T , CM000685.2:g.23393488A>T	GRCh38
NC_000023.10:g.23411605A>T , CM000685.1:g.23411605A>T	GRCh37
NC_000023.9:g.23321526A>T	NCBI36
NG_021300.1:g.63621A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379361.5:c.1970A>T MANE Select	ENSP00000368666.4:p.Asn657Ile
ENST00000379361.4:c.1970A>T	ENSP00000368666.4:p.Asn657Ile
NM_173495.2:c.1970A>T	NP_775766.2:p.Asn657Ile
XM_011545449.1:c.1970A>T	XP_011543751.1:p.Asn657Ile
XM_011545449.3:c.1970A>T	XP_011543751.1:p.Asn657Ile
NM_173495.3:c.1970A>T MANE Select	NP_775766.2:p.Asn657Ile