Canonical Allele Identifier: CA12986564

Gene: SHB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.38041145T>G , CM000671.2:g.38041145T>G	GRCh38
NC_000009.11:g.38041142T>G , CM000671.1:g.38041142T>G	GRCh37
NC_000009.10:g.38031142T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377707.4:c.718-25014A>C MANE Select	ENSP00000366936.3:n.718-25014A>C
ENST00000377707.3:c.718-25014A>C	ENSP00000366936.3:n.718-25014A>C
ENST00000540557.1:c.718-25014A>C	ENSP00000457548.1:n.718-25014A>C
NM_003028.2:c.718-25014A>C	NP_003019.2:n.718-25014A>C
NM_003028.3:c.718-25014A>C MANE Select	NP_003019.2:n.718-25014A>C