Canonical Allele Identifier: CA1933418545
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034332G= , CM000672.2:g.104034332G= GRCh38
NC_000010.10:g.105794090G= , CM000672.1:g.105794090G= GRCh37
NC_000010.9:g.105784080G= NCBI36
NG_007069.1:g.56549C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3523C= ENSP00000358748.3:p.Pro1175=
ENST00000648076.2:c.3769C= MANE Select ENSP00000497653.1:p.Pro1257=
ENST00000353479.9:c.3769C= ENSP00000340937.5:p.Pro1257=
ENST00000369733.7:c.3523C= ENSP00000358748.3:p.Pro1175=
NM_000494.3:c.3769C= NP_000485.3:p.Pro1257=
NM_000494.4:c.3769C= MANE Select NP_000485.3:p.Pro1257=
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