Canonical Allele Identifier: CA212458705
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs983779533
MyVariant Identifiers: chr10:g.104037891C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037891C>G , CM000672.2:g.104037891C>G GRCh38
NC_000010.10:g.105797649C>G , CM000672.1:g.105797649C>G GRCh37
NC_000010.9:g.105787639C>G NCBI36
NG_007069.1:g.52990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2936-118G>C ENSP00000358748.3:n.2936-118G>C
ENST00000648076.2:c.3071-118G>C MANE Select ENSP00000497653.1:n.3071-118G>C
ENST00000353479.9:c.3071-118G>C ENSP00000340937.5:n.3071-118G>C
ENST00000369733.7:c.2936-118G>C ENSP00000358748.3:n.2936-118G>C
NM_000494.3:c.3071-118G>C NP_000485.3:n.3071-118G>C
NM_000494.4:c.3071-118G>C MANE Select NP_000485.3:n.3071-118G>C
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