Canonical Allele Identifier: CA471341978
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104034712-A-C
MyVariant Identifiers: chr10:g.105794470A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034712A>C , CM000672.2:g.104034712A>C GRCh38
NC_000010.10:g.105794470A>C , CM000672.1:g.105794470A>C GRCh37
NC_000010.9:g.105784460A>C NCBI36
NG_007069.1:g.56169T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3429T>G ENSP00000358748.3:p.Pro1143=
ENST00000648076.2:c.3675T>G MANE Select ENSP00000497653.1:p.Pro1225=
ENST00000353479.9:c.3675T>G ENSP00000340937.5:p.Pro1225=
ENST00000369733.7:c.3429T>G ENSP00000358748.3:p.Pro1143=
NM_000494.3:c.3675T>G NP_000485.3:p.Pro1225=
NM_000494.4:c.3675T>G MANE Select NP_000485.3:p.Pro1225=
Search 100 bp 5'
Search 100 bp 3'