Canonical Allele Identifier: CA471341988
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105794476T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034718T>A , CM000672.2:g.104034718T>A GRCh38
NC_000010.10:g.105794476T>A , CM000672.1:g.105794476T>A GRCh37
NC_000010.9:g.105784466T>A NCBI36
NG_007069.1:g.56163A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3423A>T ENSP00000358748.3:p.Pro1141=
ENST00000648076.2:c.3669A>T MANE Select ENSP00000497653.1:p.Pro1223=
ENST00000353479.9:c.3669A>T ENSP00000340937.5:p.Pro1223=
ENST00000369733.7:c.3423A>T ENSP00000358748.3:p.Pro1141=
NM_000494.3:c.3669A>T NP_000485.3:p.Pro1223=
NM_000494.4:c.3669A>T MANE Select NP_000485.3:p.Pro1223=