Canonical Allele Identifier: CA484028663
Gene: THSD1 HGNC NCBI

Linked Data

dbSNP Id: rs1459926324
MyVariant Identifiers: chr13:g.52971767T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397632T>G , CM000675.2:g.52397632T>G GRCh38
NC_000013.10:g.52971767T>G , CM000675.1:g.52971767T>G GRCh37
NC_000013.9:g.51869768T>G NCBI36
NG_047168.1:g.13863A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.621A>C MANE Select ENSP00000258613.4:p.Ala207=
ENST00000648254.1:c.621A>C ENSP00000497520.1:p.Ala207=
ENST00000258613.4:c.621A>C ENSP00000258613.4:p.Ala207=
ENST00000349258.8:c.621A>C ENSP00000340650.4:p.Ala207=
NM_018676.3:c.621A>C NP_061146.1:p.Ala207=
NM_199263.2:c.621A>C NP_954872.1:p.Ala207=
NM_018676.4:c.621A>C MANE Select NP_061146.1:p.Ala207=
NM_199263.3:c.621A>C NP_954872.1:p.Ala207=
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