Canonical Allele Identifier: CA399497204
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs1343775716
gnomAD v2: 17-39768900-A-G
gnomAD v3: 17-41612648-A-G
gnomAD v4: 17-41612648-A-G
MyVariant Identifiers: chr17:g.39768900A>G (hg19) chr17:g.41612648A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612648A>G , CM000679.2:g.41612648A>G GRCh38
NC_000017.10:g.39768900A>G , CM000679.1:g.39768900A>G GRCh37
NC_000017.9:g.37022426A>G NCBI36
NG_008301.1:g.5180T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.41T>C MANE Select ENSP00000301653.3:p.Met14Thr
ENST00000301653.8:c.41T>C ENSP00000301653.3:p.Met14Thr
ENST00000588319.1:n.118T>C
ENST00000590990.1:c.41T>C ENSP00000467105.1:p.Met14Thr
ENST00000593067.1:c.-313+142T>C ENSP00000467124.1:n.-313+142T>C
NM_005557.3:c.41T>C NP_005548.2:p.Met14Thr
NM_005557.4:c.41T>C MANE Select NP_005548.2:p.Met14Thr
Search 100 bp 5'
Search 100 bp 3'