Canonical Allele Identifier: CA5677866
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs746646394
ExAC: 10:105794477 G / C
gnomAD v2: 10-105794477-G-C
gnomAD v4: 10-104034719-G-C
MyVariant Identifiers: chr10:g.105794477G>C (hg19) chr10:g.104034719G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034719G>C , CM000672.2:g.104034719G>C GRCh38
NC_000010.10:g.105794477G>C , CM000672.1:g.105794477G>C GRCh37
NC_000010.9:g.105784467G>C NCBI36
NG_007069.1:g.56162C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3422C>G ENSP00000358748.3:p.Pro1141Arg
ENST00000648076.2:c.3668C>G MANE Select ENSP00000497653.1:p.Pro1223Arg
ENST00000353479.9:c.3668C>G ENSP00000340937.5:p.Pro1223Arg
ENST00000369733.7:c.3422C>G ENSP00000358748.3:p.Pro1141Arg
NM_000494.3:c.3668C>G NP_000485.3:p.Pro1223Arg
NM_000494.4:c.3668C>G MANE Select NP_000485.3:p.Pro1223Arg
Search 100 bp 5'
Search 100 bp 3'