Canonical Allele Identifier: CA378065846
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105794073G>C (hg19) chr10:g.104034315G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034315G>C , CM000672.2:g.104034315G>C GRCh38
NC_000010.10:g.105794073G>C , CM000672.1:g.105794073G>C GRCh37
NC_000010.9:g.105784063G>C NCBI36
NG_007069.1:g.56566C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3540C>G ENSP00000358748.3:p.Phe1180Leu
ENST00000648076.2:c.3786C>G MANE Select ENSP00000497653.1:p.Phe1262Leu
ENST00000353479.9:c.3786C>G ENSP00000340937.5:p.Phe1262Leu
ENST00000369733.7:c.3540C>G ENSP00000358748.3:p.Phe1180Leu
NM_000494.3:c.3786C>G NP_000485.3:p.Phe1262Leu
NM_000494.4:c.3786C>G MANE Select NP_000485.3:p.Phe1262Leu
Search 100 bp 5'
Search 100 bp 3'