Canonical Allele Identifier: CA804001395

Gene: CARINH

Linked Data

• dbSNP Id: rs1388986802
• gnomAD v3: 5-132433492-T-C
• gnomAD v4: 5-132433492-T-C
• MyVariant Identifiers: chr5:g.131769184T>C (hg19) ; chr5:g.132433492T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132433492T>C , CM000667.2:g.132433492T>C	GRCh38
NC_000005.9:g.131769184T>C , CM000667.1:g.131769184T>C	GRCh37
NC_000005.8:g.131797083T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000638452.2:c.-209+13552T>C	ENSP00000492349.2:n.-209+13552T>C
ENST00000638504.1:n.206+13552T>C
ENST00000638568.2:c.-351+13552T>C	ENSP00000491158.2:n.-351+13552T>C
ENST00000639899.1:n.249+13552T>C
ENST00000337752.6:c.48+13552T>C	ENSP00000338228.2:n.48+13552T>C
ENST00000378947.7:c.48+13552T>C	ENSP00000368230.3:n.48+13552T>C
ENST00000378953.8:c.48+13552T>C	ENSP00000368236.4:n.48+13552T>C
ENST00000407797.5:c.48+13552T>C	ENSP00000385513.1:n.48+13552T>C
ENST00000461203.5:n.179+13552T>C
ENST00000621237.1:c.48+13552T>C	ENSP00000481774.1:n.48+13552T>C
NR_045116.1:n.387+13552T>C
NM_001207001.2:c.48+13552T>C	NP_001193930.1:n.48+13552T>C
NR_161242.1:n.231+13552T>C