Canonical Allele Identifier: CA378065191
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs2086244928
gnomAD v3: 10-104034095-G-C
gnomAD v4: 10-104034095-G-C
MyVariant Identifiers: chr10:g.105793853G>C (hg19) chr10:g.104034095G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034095G>C , CM000672.2:g.104034095G>C GRCh38
NC_000010.10:g.105793853G>C , CM000672.1:g.105793853G>C GRCh37
NC_000010.9:g.105783843G>C NCBI36
NG_007069.1:g.56786C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3760C>G ENSP00000358748.3:p.Pro1254Ala
ENST00000647647.1:c.36C>G
ENST00000648076.2:c.4006C>G MANE Select ENSP00000497653.1:p.Pro1336Ala
ENST00000353479.9:c.4006C>G ENSP00000340937.5:p.Pro1336Ala
ENST00000369733.7:c.3760C>G ENSP00000358748.3:p.Pro1254Ala
NM_000494.3:c.4006C>G NP_000485.3:p.Pro1336Ala
NM_000494.4:c.4006C>G MANE Select NP_000485.3:p.Pro1336Ala
Search 100 bp 5'
Search 100 bp 3'