Canonical Allele Identifier: CA138669427

Gene: PTCHD4

Linked Data

• dbSNP Id: rs12209128
• gnomAD v2: 6-47882548-T-G
• gnomAD v3: 6-47914812-T-G
• gnomAD v4: 6-47914812-T-G
• MyVariant Identifiers: chr6:g.47882548T>G (hg19) ; chr6:g.47914812T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.47914812T>G , CM000668.2:g.47914812T>G	GRCh38
NC_000006.11:g.47882548T>G , CM000668.1:g.47882548T>G	GRCh37
NC_000006.10:g.47990507T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000339488.9:c.899-34876A>C MANE Select	ENSP00000341914.5:n.899-34876A>C
ENST00000398738.3:c.899-12877A>C	ENSP00000381722.3:n.899-12877A>C
ENST00000679966.1:c.1073-12877A>C	ENSP00000506133.1:n.1073-12877A>C
ENST00000339488.8:c.908-34876A>C	ENSP00000341914.4:n.908-34876A>C
ENST00000398738.2:c.906-12877A>C
NM_001013732.3:c.908-34876A>C	NP_001013754.3:n.908-34876A>C
NM_207499.2:c.908-12877A>C	NP_997382.2:n.908-12877A>C
XM_011514636.1:c.1073-34876A>C	XP_011512938.1:n.1073-34876A>C
XM_011514637.1:c.899-34876A>C	XP_011512939.1:n.899-34876A>C
XM_011514639.1:c.149-34876A>C	XP_011512941.1:n.149-34876A>C
XM_011514640.1:c.-101-34876A>C	XP_011512942.1:n.-101-34876A>C
XM_011514639.2:c.149-34876A>C	XP_011512941.1:n.149-34876A>C
XM_017010891.1:c.1082-34876A>C	XP_016866380.1:n.1082-34876A>C
XM_017010892.1:c.1073-34876A>C	XP_016866381.1:n.1073-34876A>C
XM_017010893.1:c.899-34876A>C	XP_016866382.1:n.899-34876A>C
XM_017010894.1:c.98-34876A>C	XP_016866383.1:n.98-34876A>C
XM_017010895.1:c.98-34876A>C	XP_016866384.1:n.98-34876A>C
XM_017010896.1:c.899-12877A>C	XP_016866385.1:n.899-12877A>C
NM_001013732.4:c.908-34876A>C	NP_001013754.3:n.908-34876A>C
NM_001384253.1:c.899-34876A>C MANE Select	NP_001371182.1:n.899-34876A>C