Canonical Allele Identifier: CA515620337

Gene: PTCHD1

Linked Data

• gnomAD v4: X-23393540-C-T
• MyVariant Identifiers: chrX:g.23411657C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393540C>T , CM000685.2:g.23393540C>T	GRCh38
NC_000023.10:g.23411657C>T , CM000685.1:g.23411657C>T	GRCh37
NC_000023.9:g.23321578C>T	NCBI36
NG_021300.1:g.63673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379361.5:c.2022C>T MANE Select	ENSP00000368666.4:p.Thr674=
ENST00000379361.4:c.2022C>T	ENSP00000368666.4:p.Thr674=
NM_173495.2:c.2022C>T	NP_775766.2:p.Thr674=
XM_011545449.1:c.2022C>T	XP_011543751.1:p.Thr674=
XM_011545449.3:c.2022C>T	XP_011543751.1:p.Thr674=
NM_173495.3:c.2022C>T MANE Select	NP_775766.2:p.Thr674=