Canonical Allele Identifier: CA471502778
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105793854A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034096A>T , CM000672.2:g.104034096A>T GRCh38
NC_000010.10:g.105793854A>T , CM000672.1:g.105793854A>T GRCh37
NC_000010.9:g.105783844A>T NCBI36
NG_007069.1:g.56785T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3759T>A ENSP00000358748.3:p.Gly1253=
ENST00000647647.1:c.35T>A
ENST00000648076.2:c.4005T>A MANE Select ENSP00000497653.1:p.Gly1335=
ENST00000353479.9:c.4005T>A ENSP00000340937.5:p.Gly1335=
ENST00000369733.7:c.3759T>A ENSP00000358748.3:p.Gly1253=
NM_000494.3:c.4005T>A NP_000485.3:p.Gly1335=
NM_000494.4:c.4005T>A MANE Select NP_000485.3:p.Gly1335=