Canonical Allele Identifier: CA2610800819
Gene: COL17A1 HGNC NCBI

Linked Data

gnomAD v4: 10-104037815-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037815A>C , CM000672.2:g.104037815A>C GRCh38
NC_000010.10:g.105797573A>C , CM000672.1:g.105797573A>C GRCh37
NC_000010.9:g.105787563A>C NCBI36
NG_007069.1:g.53066T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2936-42T>G ENSP00000358748.3:n.2936-42T>G
ENST00000648076.2:c.3071-42T>G MANE Select ENSP00000497653.1:n.3071-42T>G
ENST00000353479.9:c.3071-42T>G ENSP00000340937.5:n.3071-42T>G
ENST00000369733.7:c.2936-42T>G ENSP00000358748.3:n.2936-42T>G
NM_000494.3:c.3071-42T>G NP_000485.3:n.3071-42T>G
NM_000494.4:c.3071-42T>G MANE Select NP_000485.3:n.3071-42T>G
Search 100 bp 5'
Search 100 bp 3'