Canonical Allele Identifier: CA1933418600
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs886531868
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034421A>T , CM000672.2:g.104034421A>T GRCh38
NC_000010.10:g.105794179A>T , CM000672.1:g.105794179A>T GRCh37
NC_000010.9:g.105784169A>T NCBI36
NG_007069.1:g.56460T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3521-87T>A ENSP00000358748.3:n.3521-87T>A
ENST00000648076.2:c.3767-87T>A MANE Select ENSP00000497653.1:n.3767-87T>A
ENST00000353479.9:c.3767-87T>A ENSP00000340937.5:n.3767-87T>A
ENST00000369733.7:c.3521-87T>A ENSP00000358748.3:n.3521-87T>A
NM_000494.3:c.3767-87T>A NP_000485.3:n.3767-87T>A
NM_000494.4:c.3767-87T>A MANE Select NP_000485.3:n.3767-87T>A
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