Canonical Allele Identifier: CA10402733

Gene: PORCN

Linked Data

• dbSNP Id: rs373705549
• ExAC: X:48370332 C / A
• gnomAD v2: X-48370332-C-A
• gnomAD v4: X-48511944-C-A
• MyVariant Identifiers: chrX:g.48370332C>A (hg19) ; chrX:g.48511944C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511944C>A , CM000685.2:g.48511944C>A	GRCh38
NC_000023.10:g.48370332C>A , CM000685.1:g.48370332C>A	GRCh37
NC_000023.9:g.48255276C>A	NCBI36
NG_009278.1:g.7962C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367574.9:c.373+9C>A	ENSP00000356546.6:n.373+9C>A
ENST00000537758.6:c.373+9C>A	ENSP00000446401.3:n.373+9C>A
ENST00000682661.1:n.532+9C>A
ENST00000683923.1:c.373+9C>A	ENSP00000506737.1:n.373+9C>A
ENST00000684722.1:n.555+9C>A
ENST00000326194.11:c.373+9C>A MANE Select	ENSP00000322304.6:n.373+9C>A
ENST00000485288.7:c.*41+9C>A	ENSP00000420445.3:n.*41+9C>A
ENST00000326194.10:c.373+9C>A	ENSP00000322304.6:n.373+9C>A
ENST00000355092.4:c.238+9C>A	ENSP00000347207.4:n.238+9C>A
ENST00000355961.8:c.373+9C>A	ENSP00000348233.4:n.373+9C>A
ENST00000359882.8:c.373+9C>A	ENSP00000352946.4:n.373+9C>A
ENST00000361988.7:c.373+9C>A	ENSP00000354978.3:n.373+9C>A
ENST00000367574.8:c.373+9C>A	ENSP00000356546.5:n.373+9C>A
ENST00000470275.2:c.*41+9C>A	ENSP00000418644.2:n.*41+9C>A
ENST00000472520.5:c.*27+9C>A	ENSP00000419858.1:n.*27+9C>A
ENST00000485288.6:c.*41+9C>A	ENSP00000420445.2:n.*41+9C>A
ENST00000491243.5:n.421C>A
ENST00000528612.5:c.*41+9C>A	ENSP00000431224.1:n.*41+9C>A
ENST00000537758.5:c.373+9C>A	ENSP00000446401.2:n.373+9C>A
NM_001282167.1:c.160+9C>A	NP_001269096.1:n.160+9C>A
NM_022825.3:c.373+9C>A	NP_073736.2:n.373+9C>A
NM_203473.2:c.373+9C>A	NP_982299.1:n.373+9C>A
NM_203474.1:c.373+9C>A	NP_982300.1:n.373+9C>A
NM_203475.2:c.373+9C>A	NP_982301.1:n.373+9C>A
XM_005272635.1:c.712+9C>A	XP_005272692.1:n.712+9C>A
XM_005272636.1:c.712+9C>A	XP_005272693.1:n.712+9C>A
XM_005272637.1:c.625+9C>A	XP_005272694.1:n.625+9C>A
XM_006724544.2:c.478+9C>A	XP_006724607.1:n.478+9C>A
XM_006724545.2:c.424+9C>A	XP_006724608.1:n.424+9C>A
XM_006724546.2:c.373+9C>A	XP_006724609.1:n.373+9C>A
XM_006724547.1:c.160+9C>A	XP_006724610.1:n.160+9C>A
XM_011543948.1:c.160+9C>A	XP_011542250.1:n.160+9C>A
XM_024452425.1:c.712+9C>A	XP_024308193.1:n.712+9C>A
NM_001282167.2:c.160+9C>A	NP_001269096.1:n.160+9C>A
NM_022825.4:c.373+9C>A	NP_073736.2:n.373+9C>A
NM_203473.3:c.373+9C>A	NP_982299.1:n.373+9C>A
NM_203475.3:c.373+9C>A MANE Select	NP_982301.1:n.373+9C>A