Canonical Allele Identifier: CA8255509
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs756191158
ExAC: 16:89985832 A / T
gnomAD v2: 16-89985832-A-T
gnomAD v3: 16-89919424-A-T
gnomAD v4: 16-89919424-A-T
MyVariant Identifiers: chr16:g.89985832A>T (hg19) chr16:g.89919424A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919424A>T , CM000678.2:g.89919424A>T GRCh38
NC_000016.9:g.89985832A>T , CM000678.1:g.89985832A>T GRCh37
NC_000016.8:g.88513333A>T NCBI36
NG_012026.1:g.6546A>T
NG_027810.1:g.2416A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.166A>T MANE Select ENSP00000451605.1:p.Asn56Tyr
ENST00000639847.1:c.166A>T ENSP00000492011.1:p.Asn56Tyr
ENST00000555147.1:c.166A>T ENSP00000451605.1:p.Asn56Tyr
ENST00000555427.1:c.166A>T ENSP00000451760.1:p.Asn56Tyr
ENST00000556922.1:c.166A>T ENSP00000451560.1:p.Asn56Tyr
NM_002386.3:c.166A>T NP_002377.4:p.Asn56Tyr
NM_002386.4:c.166A>T MANE Select NP_002377.4:p.Asn56Tyr
Search 100 bp 5'
Search 100 bp 3'