Canonical Allele Identifier: CA378065207
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1564669699
gnomAD v2: 10-105793858-C-G
gnomAD v4: 10-104034100-C-G
MyVariant Identifiers: chr10:g.105793858C>G (hg19) chr10:g.105793858_105793859delinsGT (hg19) chr10:g.104034100C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034100C>G , CM000672.2:g.104034100C>G GRCh38
NC_000010.10:g.105793858C>G , CM000672.1:g.105793858C>G GRCh37
NC_000010.9:g.105783848C>G NCBI36
NG_007069.1:g.56781G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3755G>C ENSP00000358748.3:p.Arg1252Thr
ENST00000647647.1:c.31G>C
ENST00000648076.2:c.4001G>C MANE Select ENSP00000497653.1:p.Arg1334Thr
ENST00000353479.9:c.4001G>C ENSP00000340937.5:p.Arg1334Thr
ENST00000369733.7:c.3755G>C ENSP00000358748.3:p.Arg1252Thr
NM_000494.3:c.4001G>C NP_000485.3:p.Arg1334Thr
NM_000494.4:c.4001G>C MANE Select NP_000485.3:p.Arg1334Thr
Search 100 bp 5'
Search 100 bp 3'