Canonical Allele Identifier: CA1933418667
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086255105
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034532C>T , CM000672.2:g.104034532C>T GRCh38
NC_000010.10:g.105794290C>T , CM000672.1:g.105794290C>T GRCh37
NC_000010.9:g.105784280C>T NCBI36
NG_007069.1:g.56349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3520+89G>A ENSP00000358748.3:n.3520+89G>A
ENST00000648076.2:c.3766+89G>A MANE Select ENSP00000497653.1:n.3766+89G>A
ENST00000353479.9:c.3766+89G>A ENSP00000340937.5:n.3766+89G>A
ENST00000369733.7:c.3520+89G>A ENSP00000358748.3:n.3520+89G>A
NM_000494.3:c.3766+89G>A NP_000485.3:n.3766+89G>A
NM_000494.4:c.3766+89G>A MANE Select NP_000485.3:n.3766+89G>A
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