Canonical Allele Identifier: CA471338816
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105824233T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104064475T>A , CM000672.2:g.104064475T>A GRCh38
NC_000010.10:g.105824233T>A , CM000672.1:g.105824233T>A GRCh37
NC_000010.9:g.105814223T>A NCBI36
NG_007069.1:g.26406A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.729A>T ENSP00000358748.3:p.Ser243=
ENST00000648076.2:c.729A>T MANE Select ENSP00000497653.1:p.Ser243=
ENST00000649118.1:n.844A>T
ENST00000650263.1:c.681A>T ENSP00000497850.1:p.Ser227=
ENST00000353479.9:c.729A>T ENSP00000340937.5:p.Ser243=
ENST00000369733.7:c.729A>T ENSP00000358748.3:p.Ser243=
ENST00000393211.3:c.729A>T ENSP00000376905.3:p.Ser243=
ENST00000488320.1:n.74A>T
NM_000494.3:c.729A>T NP_000485.3:p.Ser243=
NM_000494.4:c.729A>T MANE Select NP_000485.3:p.Ser243=