Canonical Allele Identifier: CA378065241
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104034110-C-A
MyVariant Identifiers: chr10:g.105793868C>A (hg19) chr10:g.104034110C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3745G>T ENSP00000358748.3:p.Ala1249Ser
ENST00000647647.1:c.21G>T
ENST00000648076.2:c.3991G>T MANE Select ENSP00000497653.1:p.Ala1331Ser
ENST00000353479.9:c.3991G>T ENSP00000340937.5:p.Ala1331Ser
ENST00000369733.7:c.3745G>T ENSP00000358748.3:p.Ala1249Ser
NM_000494.3:c.3991G>T NP_000485.3:p.Ala1331Ser
NM_000494.4:c.3991G>T MANE Select NP_000485.3:p.Ala1331Ser
Search 100 bp 5'
Search 100 bp 3'