Canonical Allele Identifier: CA378064869
Gene: COL17A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104033951T>A , CM000672.2:g.104033951T>A GRCh38
NC_000010.10:g.105793709T>A , CM000672.1:g.105793709T>A GRCh37
NC_000010.9:g.105783699T>A NCBI36
NG_007069.1:g.56930A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3904A>T ENSP00000358748.3:p.Met1302Leu
ENST00000647647.1:c.180A>T
ENST00000648076.2:c.4150A>T MANE Select ENSP00000497653.1:p.Met1384Leu
ENST00000353479.9:c.4150A>T ENSP00000340937.5:p.Met1384Leu
ENST00000369733.7:c.3904A>T ENSP00000358748.3:p.Met1302Leu
NM_000494.3:c.4150A>T NP_000485.3:p.Met1384Leu
NM_000494.4:c.4150A>T MANE Select NP_000485.3:p.Met1384Leu