Canonical Allele Identifier: CA378067270
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037731G>T , CM000672.2:g.104037731G>T GRCh38
NC_000010.10:g.105797489G>T , CM000672.1:g.105797489G>T GRCh37
NC_000010.9:g.105787479G>T NCBI36
NG_007069.1:g.53150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2978C>A ENSP00000358748.3:p.Pro993Gln
ENST00000648076.2:c.3113C>A MANE Select ENSP00000497653.1:p.Pro1038Gln
ENST00000353479.9:c.3113C>A ENSP00000340937.5:p.Pro1038Gln
ENST00000369733.7:c.2978C>A ENSP00000358748.3:p.Pro993Gln
NM_000494.3:c.3113C>A NP_000485.3:p.Pro1038Gln
NM_000494.4:c.3113C>A MANE Select NP_000485.3:p.Pro1038Gln