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WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.52069497G>T , CM000668.2:g.52069497G>T
GRCh38
NC_000006.11:g.51934295G>T , CM000668.1:g.51934295G>T
GRCh37
NC_000006.10:g.52042254G>T
NCBI36
NG_008753.1:g.23129C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000371117.8:c.738C>A
MANE Select
ENSP00000360158.3:p.Ile246=
ENST00000340994.4:c.738C>A
ENSP00000341097.4:p.Ile246=
ENST00000371117.7:c.738C>A
ENSP00000360158.3:p.Ile246=
NM_138694.3:c.738C>A
NP_619639.3:p.Ile246=
NM_170724.2:c.738C>A
NP_733842.2:p.Ile246=
XM_011514679.1:c.738C>A
XP_011512981.1:p.Ile246=
XM_011514680.1:c.738C>A
XP_011512982.1:p.Ile246=
XM_011514681.1:c.738C>A
XP_011512983.1:p.Ile246=
XM_011514682.1:c.738C>A
XP_011512984.1:p.Ile246=
XM_011514683.1:c.738C>A
XP_011512985.1:p.Ile246=
XM_011514684.1:c.27C>A
XP_011512986.1:p.Ile9=
XM_011514685.1:c.738C>A
XP_011512987.1:p.Ile246=
XM_011514686.1:c.738C>A
XP_011512988.1:p.Ile246=
XM_011514687.1:c.738C>A
XP_011512989.1:p.Ile246=
XM_011514688.1:c.738C>A
XP_011512990.1:p.Ile246=
XM_011514689.1:c.738C>A
XP_011512991.1:p.Ile246=
XR_926869.1:n.389+301G>T
XM_011514680.3:c.738C>A
XP_011512982.1:p.Ile246=
XM_011514682.3:c.738C>A
XP_011512984.1:p.Ile246=
XM_011514683.3:c.738C>A
XP_011512985.1:p.Ile246=
XM_011514684.3:c.27C>A
XP_011512986.1:p.Ile9=
XM_011514686.2:c.738C>A
XP_011512988.1:p.Ile246=
XM_011514688.2:c.738C>A
XP_011512990.1:p.Ile246=
XM_017010944.2:c.738C>A
XP_016866433.1:p.Ile246=
XM_017010945.2:c.663C>A
XP_016866434.1:p.Ile221=
XM_017010946.2:c.738C>A
XP_016866435.1:p.Ile246=
XM_017010947.2:c.738C>A
XP_016866436.1:p.Ile246=
XM_017010948.2:c.27C>A
XP_016866437.1:p.Ile9=
XM_017010950.1:c.738C>A
XP_016866439.1:p.Ile246=
XM_017010951.1:c.738C>A
XP_016866440.1:p.Ile246=
XM_017010952.1:c.738C>A
XP_016866441.1:p.Ile246=
XR_001743469.1:n.1014C>A
NM_138694.4:c.738C>A
MANE Select
NP_619639.3:p.Ile246=
NM_170724.3:c.738C>A
NP_733842.2:p.Ile246=