Canonical Allele Identifier: CA378065249
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034113C>G , CM000672.2:g.104034113C>G GRCh38
NC_000010.10:g.105793871C>G , CM000672.1:g.105793871C>G GRCh37
NC_000010.9:g.105783861C>G NCBI36
NG_007069.1:g.56768G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3742G>C ENSP00000358748.3:p.Ala1248Pro
ENST00000647647.1:c.18G>C
ENST00000648076.2:c.3988G>C MANE Select ENSP00000497653.1:p.Ala1330Pro
ENST00000353479.9:c.3988G>C ENSP00000340937.5:p.Ala1330Pro
ENST00000369733.7:c.3742G>C ENSP00000358748.3:p.Ala1248Pro
NM_000494.3:c.3988G>C NP_000485.3:p.Ala1330Pro
NM_000494.4:c.3988G>C MANE Select NP_000485.3:p.Ala1330Pro