Canonical Allele Identifier: CA2789320513
Gene: COL17A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034552C>A , CM000672.2:g.104034552C>A GRCh38
NC_000010.10:g.105794310C>A , CM000672.1:g.105794310C>A GRCh37
NC_000010.9:g.105784300C>A NCBI36
NG_007069.1:g.56329G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3520+69G>T ENSP00000358748.3:n.3520+69G>T
ENST00000648076.2:c.3766+69G>T MANE Select ENSP00000497653.1:n.3766+69G>T
ENST00000353479.9:c.3766+69G>T ENSP00000340937.5:n.3766+69G>T
ENST00000369733.7:c.3520+69G>T ENSP00000358748.3:n.3520+69G>T
NM_000494.3:c.3766+69G>T NP_000485.3:n.3766+69G>T
NM_000494.4:c.3766+69G>T MANE Select NP_000485.3:n.3766+69G>T
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