Canonical Allele Identifier: CA471343775
Gene: COL17A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105797449T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037691T>C , CM000672.2:g.104037691T>C GRCh38
NC_000010.10:g.105797449T>C , CM000672.1:g.105797449T>C GRCh37
NC_000010.9:g.105787439T>C NCBI36
NG_007069.1:g.53190A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3018A>G ENSP00000358748.3:p.Thr1006=
ENST00000648076.2:c.3153A>G MANE Select ENSP00000497653.1:p.Thr1051=
ENST00000353479.9:c.3153A>G ENSP00000340937.5:p.Thr1051=
ENST00000369733.7:c.3018A>G ENSP00000358748.3:p.Thr1006=
NM_000494.3:c.3153A>G NP_000485.3:p.Thr1051=
NM_000494.4:c.3153A>G MANE Select NP_000485.3:p.Thr1051=