Canonical Allele Identifier: CA889587618
Gene: CTRC HGNC NCBI

Linked Data

dbSNP Id: rs1293286755
gnomAD v3: 1-15445998-T-G
gnomAD v4: 1-15445998-T-G
MyVariant Identifiers: chr1:g.15772493T>G (hg19) chr1:g.15445998T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15445998T>G , CM000663.2:g.15445998T>G GRCh38
NC_000001.10:g.15772493T>G , CM000663.1:g.15772493T>G GRCh37
NC_000001.9:g.15645080T>G NCBI36
NG_009253.1:g.12556T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375949.5:c.792+249T>G MANE Select ENSP00000365116.4:n.792+249T>G
ENST00000375943.6:c.*246+249T>G ENSP00000365110.2:n.*246+249T>G
ENST00000375949.4:c.792+249T>G ENSP00000365116.4:n.792+249T>G
ENST00000483406.1:n.556+249T>G
NM_007272.2:c.792+249T>G NP_009203.2:n.792+249T>G
XM_011540550.1:c.646+249T>G XP_011538852.1:n.646+249T>G
NM_007272.3:c.792+249T>G MANE Select NP_009203.2:n.792+249T>G
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