Canonical Allele Identifier: CA5679324
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs761011735
ExAC: 10:105824254 G / T
gnomAD v2: 10-105824254-G-T
gnomAD v3: 10-104064496-G-T
gnomAD v4: 10-104064496-G-T
MyVariant Identifiers: chr10:g.105824254G>T (hg19) chr10:g.104064496G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064496G>T , CM000672.2:g.104064496G>T GRCh38
NC_000010.10:g.105824254G>T , CM000672.1:g.105824254G>T GRCh37
NC_000010.9:g.105814244G>T NCBI36
NG_007069.1:g.26385C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.708C>A ENSP00000358748.3:p.Asn236Lys
ENST00000648076.2:c.708C>A MANE Select ENSP00000497653.1:p.Asn236Lys
ENST00000649118.1:n.823C>A
ENST00000650263.1:c.660C>A ENSP00000497850.1:p.Asn220Lys
ENST00000353479.9:c.708C>A ENSP00000340937.5:p.Asn236Lys
ENST00000369733.7:c.708C>A ENSP00000358748.3:p.Asn236Lys
ENST00000393211.3:c.708C>A ENSP00000376905.3:p.Asn236Lys
ENST00000488320.1:n.53C>A
NM_000494.3:c.708C>A NP_000485.3:p.Asn236Lys
NM_000494.4:c.708C>A MANE Select NP_000485.3:p.Asn236Lys
Search 100 bp 5'
Search 100 bp 3'