Canonical Allele Identifier: CA338567663
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1345560723
gnomAD v2: 1-15772090-A-C
gnomAD v3: 1-15445595-A-C
gnomAD v4: 1-15445595-A-C
MyVariant Identifiers: chr1:g.15772090A>C (hg19) chr1:g.15445595A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445595A>C , CM000663.2:g.15445595A>C GRCh38
NC_000001.10:g.15772090A>C , CM000663.1:g.15772090A>C GRCh37
NC_000001.9:g.15644677A>C NCBI36
NG_009253.1:g.12153A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375949.5:c.640-2A>C MANE Select ENSP00000365116.4:n.640-2A>C
ENST00000375943.6:c.*94-2A>C ENSP00000365110.2:n.*94-2A>C
ENST00000375949.4:c.640-2A>C ENSP00000365116.4:n.640-2A>C
ENST00000483406.1:n.404-2A>C
NM_007272.2:c.640-2A>C NP_009203.2:n.640-2A>C
XM_011540550.1:c.494-2A>C XP_011538852.1:n.494-2A>C
NM_007272.3:c.640-2A>C MANE Select NP_009203.2:n.640-2A>C
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