Canonical Allele Identifier: CA471502786
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104034101-T-G
MyVariant Identifiers: chr10:g.105793859T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034101T>G , CM000672.2:g.104034101T>G GRCh38
NC_000010.10:g.105793859T>G , CM000672.1:g.105793859T>G GRCh37
NC_000010.9:g.105783849T>G NCBI36
NG_007069.1:g.56780A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3754A>C ENSP00000358748.3:p.Arg1252=
ENST00000647647.1:c.30A>C
ENST00000648076.2:c.4000A>C MANE Select ENSP00000497653.1:p.Arg1334=
ENST00000353479.9:c.4000A>C ENSP00000340937.5:p.Arg1334=
ENST00000369733.7:c.3754A>C ENSP00000358748.3:p.Arg1252=
NM_000494.3:c.4000A>C NP_000485.3:p.Arg1334=
NM_000494.4:c.4000A>C MANE Select NP_000485.3:p.Arg1334=
Search 100 bp 5'
Search 100 bp 3'