Canonical Allele Identifier: CA412586930

Gene: PTCHD1

Linked Data

• MyVariant Identifiers: chrX:g.23411610G>T (hg19) ; chrX:g.23393493G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393493G>T , CM000685.2:g.23393493G>T	GRCh38
NC_000023.10:g.23411610G>T , CM000685.1:g.23411610G>T	GRCh37
NC_000023.9:g.23321531G>T	NCBI36
NG_021300.1:g.63626G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379361.5:c.1975G>T MANE Select	ENSP00000368666.4:p.Glu659Ter
ENST00000379361.4:c.1975G>T	ENSP00000368666.4:p.Glu659Ter
NM_173495.2:c.1975G>T	NP_775766.2:p.Glu659Ter
XM_011545449.1:c.1975G>T	XP_011543751.1:p.Glu659Ter
XM_011545449.3:c.1975G>T	XP_011543751.1:p.Glu659Ter
NM_173495.3:c.1975G>T MANE Select	NP_775766.2:p.Glu659Ter