Canonical Allele Identifier: CA378065239
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1254118104
gnomAD v2: 10-105793868-C-T
gnomAD v4: 10-104034110-C-T
MyVariant Identifiers: chr10:g.105793868C>T (hg19) chr10:g.104034110C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034110C>T , CM000672.2:g.104034110C>T GRCh38
NC_000010.10:g.105793868C>T , CM000672.1:g.105793868C>T GRCh37
NC_000010.9:g.105783858C>T NCBI36
NG_007069.1:g.56771G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3745G>A ENSP00000358748.3:p.Ala1249Thr
ENST00000647647.1:c.21G>A
ENST00000648076.2:c.3991G>A MANE Select ENSP00000497653.1:p.Ala1331Thr
ENST00000353479.9:c.3991G>A ENSP00000340937.5:p.Ala1331Thr
ENST00000369733.7:c.3745G>A ENSP00000358748.3:p.Ala1249Thr
NM_000494.3:c.3991G>A NP_000485.3:p.Ala1331Thr
NM_000494.4:c.3991G>A MANE Select NP_000485.3:p.Ala1331Thr
Search 100 bp 5'
Search 100 bp 3'