Canonical Allele Identifier: CA378065912
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104034627-G-T
MyVariant Identifiers: chr10:g.105794385G>T (hg19) chr10:g.104034627G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034627G>T , CM000672.2:g.104034627G>T GRCh38
NC_000010.10:g.105794385G>T , CM000672.1:g.105794385G>T GRCh37
NC_000010.9:g.105784375G>T NCBI36
NG_007069.1:g.56254C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3514C>A ENSP00000358748.3:p.Leu1172Ile
ENST00000648076.2:c.3760C>A MANE Select ENSP00000497653.1:p.Leu1254Ile
ENST00000353479.9:c.3760C>A ENSP00000340937.5:p.Leu1254Ile
ENST00000369733.7:c.3514C>A ENSP00000358748.3:p.Leu1172Ile
NM_000494.3:c.3760C>A NP_000485.3:p.Leu1254Ile
NM_000494.4:c.3760C>A MANE Select NP_000485.3:p.Leu1254Ile
Search 100 bp 5'
Search 100 bp 3'