Canonical Allele Identifier: CA471341659
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105793782A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034024A>G , CM000672.2:g.104034024A>G GRCh38
NC_000010.10:g.105793782A>G , CM000672.1:g.105793782A>G GRCh37
NC_000010.9:g.105783772A>G NCBI36
NG_007069.1:g.56857T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3831T>C ENSP00000358748.3:p.Asn1277=
ENST00000647647.1:c.107T>C
ENST00000648076.2:c.4077T>C MANE Select ENSP00000497653.1:p.Asn1359=
ENST00000353479.9:c.4077T>C ENSP00000340937.5:p.Asn1359=
ENST00000369733.7:c.3831T>C ENSP00000358748.3:p.Asn1277=
NM_000494.3:c.4077T>C NP_000485.3:p.Asn1359=
NM_000494.4:c.4077T>C MANE Select NP_000485.3:p.Asn1359=